Saturday, December 26, 2009

Redheads, Inflammation, and Celiac Disease

As I mentioned in previous blogs, when the gene for the melanocortin 1 receptor (MC1R) does not work on skin melanocyte cells, it causes the individual to have red hair and fair skin. But recent studies show that MC1R is not only expressed on skin melanocyte cells, where it determines pigment. It is also expressed on antigen-presenting and other immune cells, including monocytes, macrophages, mast cells, T and B cells and dendritic cells, where its primary role is to down regulate inflammation and allergic response. Basically, when these cells encounter an inflammatory environment, they increase the number of MC1 receptors and produce more α-melanocyte stimulating hormone (α-MSH) to put out the fire. Since the MC1 receptor genetically doesn’t function in the skin melanocyte cells of redheads, then can it conceivably be hypothesized that it also doesn’t function, or that its function is significantly compromised, in these other immune cells where it also appears, possibly compromising a redhead's defense against allergic and inflammatory conditions? One possible example of an allergic and inflammatory condition to which redheads might be vulnerable is Celiac Disease.

Redheads and Celiac Disease

When I first started researching redheads and health, one of the first studies I encountered related Celiac Disease to the melanocortin 1 receptor, the gene responsible for red hair. At the time, my sister who is a redhead had recently been diagnosed with Celiac Disease, and I wondered if there was some sort of connection between the two. Celiac Disease is a food intolerance to a gluten protein found in grains including wheat, rye, oats, barley, triticale, spelt, and kamut. It affects approximately 1 in 133 Americans, and it causes damage to the intestinal villi, which results in malabsorption of nutrients and intestinal permeability (leaky gut), which may lead to other food allergies or intolerances. Celiac Disease is considered to be a multi-system, multi-symptom disorder. Celiac Disease is strongly associated with the human leukocyte antigen (HLA) molecule, which is a gene encoded on alleles DQ2 and DQ8. Approximately 92 to 98 percent of patients with Celiac Disease carry the HLA-DQ2 gene, while the remaining 2 to 8 percent of cases carry the HLA-DQ8 gene. Celiac Disease symptoms are extremely varied, can often mimic other bowel disorders and are not always gastrointestinal. Infants, toddlers, and young children often exhibit growth failure, vomiting, bloated abdomen and behavioral changes. Symptoms of Celiac Disease may include one or more of the following:

* Abdominal cramps, gas and bloating
* Anemia
* Borborygmi (stomach rumbling)
* Coetaneous bleeding
* Diarrhea
* Easy bruising
* Epitasis (nose bleeding)
* Failure to thrive
* Fatigue or general weakness
* Flatulence
* Fluid retention
* Foul-smelling or grayish stools that are often fatty or oily
* Gastrointestinal symptoms
* Gastrointestinal hemorrhage
* Hematuria (red urine)
* Hypocalcaemia/ hypomagnesaemia
* Infertility
* Iron deficiency anemia
* lymphocytic gastritis
* Muscle weakness
* Muscle wasting
* Nausea
* No obvious physical symptoms (just fatigue, overall not feeling well)
* Osteoporosis
* Pallor (unhealthy pale appearance)
* Panic Attacks
* Peripheral neuropathy (nerve damage)
* Stunted growth in children
* Vertigo
* Vitamin B12 deficiency
* Vitamin D deficiency
* Vitamin K deficiency
* Vomiting
* Voracious appetite
* Weight loss
* Obesity

In a study by Colombo et al. regarding Celiac Disease, it was found that the production of α-MSH and the activity of MC1 receptors in the goblet cells of the damaged atrophic intestinal villi of untreated Celiac patients significantly increased when exposed to gliadin (a glycoprotein of gluten). It was postulated that this increased activity was for the purpose of putting out the fire of inflammation and protecting the gut from further damage. The study suggested that if a Celiac patient has poor compliance with a gluten-restrictive diet, the administration of pharmaceutical α-MSH might be therapeutic. But were there any redheads with Celiac Disease in the study? If so, did they also exhibit enhanced production of α-MSH and MC1 receptor activity? In general, do the MC1 receptors on goblet cells in the intestine of a redhead also work to protect them from the damage of inflammation since this receptor is known not to work on the skin melanocyte cells of redheads?

It should be noted that both the Celiac Disease genes and the red hair gene are common to those of European ancestry. Those who are born with and continue to have flaming red hair through adulthood are “hard-wired” genetically to have loss of function of MC1R in skin melanocyte cells and possibly immune cells; whereas, the Celiac Disease genes may be asymptomatic, latent or silent and then turn on like a “lightswitch” due to adverse environmental or lifestyle conditions. Redheads with genetic Celiac Disease markers may not have the defense of fully functioning MC1 receptors on immune cells in the digestive tract to protect them and may be predisposed to gastrointestinal inflammation, which creates a stressful environment that could ultimately cause the Celiac Disease genes to come out of latency. In other words, just as the exterior skin of a redhead is vulnerable to damage from ultraviolet radiation from the sun, the interior “skin” or intestinal tract of a redhead might also be vulnerable to the stress and damage of everyday digestion. It’s possible that if redheads with Celiac Disease gene markers are not following a gluten-restrictive diet, not only would the fire of inflammation in the intestinal tract rage on, but also the proposed treatment with the pharmaceutical α-MSH hormone might be ineffectual.

I suggest that if you are a redhead, and most especially if you are exhibiting any symptoms of Celiac Disease noted above, that you get tested. There are a few tests that you can take:

*A genetic DNA test - this will tell you whether you have a genetic tendency towards the disease

*A blood test for Celiac Disease immune markers - this test indicates whether you might be having an immune reaction to gluten.

*A biopsy of the small intestine - this is the only test that can confirm whether you indeed have developed Celiac Disease. You must be eating gluten regularly at the time of the test for it to be accurate. Full atrophy and partial atrophy of the intestinal villi confirms that you are reacting to gluten. (Please note that some doctors only recognize full atrophy of the intestinal villi as confirmation of Celiac Disease so be sure to get a copy of the test results.)

If a redhead has a genetic predisposition towards Celiac Disease, a lifelong gluten-restrictive diet (avoiding wheat, rye, oats, barley, triticale, spelt, kamut) may be a preventive measure to ensure long-term health and vitality. Long-term consequences of undiagnosed Celiac Disease can lead to intestinal cancer, neurological and autoimmune disorders, and even death. For support and more information, please visit www.celiac.com and www.celiac.org. Please also see Therapeutic Diets for Redheads.

Even if a redhead does not have the Celiac Disease gene markers, wheat and glutinous grains can still cause allergies or gastro-intestinal disturbances due to their difficulty to digest and their over-consumption in the modern diet, particularly of wheat. If a redhead does not have the Celiac Disease genes, but is still showing signs of allergy or intolerance to gluten or wheat, one or both may need to be removed from the diet for three to six months, introduced and observed for reaction (provocatively tested), and if no reaction, included on rotation every fourth day. Whole grains that are soaked overnight with lemon juice or whey or fermented then cooked may be better tolerated than those that are not. Many redheads may also happily partake of non-glutinous organic grains such as brown or wild rice, quinoa, millet, buckwheat, teff or amaranth. Minimal consumption of grains is recommended for redheads depending on their sensitivities.

Glutinous grains, especially refined glutinous grains, are usually over-consumed and one of the biggest culprits for weight gain, so restricting gluten may have the added benefit of weight loss. But in case you need that chocolate chip cookie or cake for an occasional indulgence, there a lot of delicious gluten-free options available now. Look for boxes that are marked "gluten-free" in your local natural grocery. There are also some great specialty bakeries in more urban areas available.

I myself have never gotten a DNA test to see if I have the gene for Celiac Disease. After my sister was diagnosed, I did get a blood test which showed that I had high anti-gliadin antibodies which indicated some sort of allergic reaction to gluten. Since other autoimmune diseases run in my family, including Multiple Sclerosis, and since my sister has a confirmed case of Celiac Disease, I decided to restrict gluten from my diet, and I'm so happy that I did! I feel that a gluten-restrictive diet was very instrumental to my resolving my digestive problems. Somehow I still found a way to occasionally indulge in cookies, cake, and pizza -- as the 20 pounds I've recently gained keep reminding me, but for me that's a good thing, because my Celiac Disease symptom was weight loss. I was too thin! So it all worked out.

Some supportive books, blogs, and websites for Celiac Disease and digestion:

www.celiac.com

www.celiac.org

Gluten Free Girl and the Chef Blog

Dr. Doherty's C-liac Vitality Supplement Packets

Saturday, October 3, 2009

Albinism

On Friday, October 2nd, ABC's 20/20 aired a broadcast entitled Albinism: Caught Between Light and Dark. I found this broadcast to be very heartwarming. Whatever ridicule or self-consciousness I experienced as an extremely pale redheaded child is mild in comparison to what a child with albinism may experience. I was also quite shocked to hear about the brutal murders of albinos in Tanzania and other African countries. Apparently, their body parts sell for a premium as ingredients for wealth potions made by witch doctors. It is barbarism at its worst.

I highly encourage all of us redheads to help out our fellow albino brothers and sisters by signing a petition or making a donation at Under the Same Sun.

Also, if you want to find out more about what genetically causes albinism, please see my blog The Red Hair Factory.

Friday, August 14, 2009

Redheads and Pain Tolerance

Redheads Require More Anesthesia in Surgery

For many years, anesthesiologists have anecdotally observed that redheads required more anesthesia in surgery. In 2004, Dr. Edwin Liem from the University of Louisville, Kentucky, decided to put this theory to the test. He conducted controlled scientific experiments and confirmed that female redheads require 19 percent more anesthesia in surgery. In a follow up study in 2005, he confirmed that female redheads “were significantly more sensitive to cold pain perception, cold pain tolerance, and heat pain tolerance”, and that again they were resistant to injected anesthesia, but not as resistant to topical anesthesia. They restricted the studies to women to eliminate the possible differences in analgesic pathways between men and women. This effect may not be the case for all female redheads so it is important that you discuss these findings with your doctor if you ever have the need for a surgical procedure.

But why? How? In the central nervous system, different hormones work together to create balance in perception of pain: alpha-MSH increases sensitivity to pain via melanocortin receptors, MC3R and MC4R, while opiates decrease sensitivity to pain. Dr. Liem postulates that there is a negative feedback loop from the malfunctioning MC1 receptor in redheads to the pituitary, which induces it to secrete excess circulatory alpha-MSH. The excess alpha-MSH acts on other fully functioning receptors in the central nervous system, MC3R and MC4R, and overpowers the opiate hormones. The result is a hormone imbalance and increased sensitivity to pain. Read more about this negative feedback loop in The Red Hair Factory. Redheads may also be susceptible to altered serotonin secretions from the skin melanocyte cells, which may exacerbate this effect since serotonin is a known modulator of pain. In a personal communication, Dr. Liem mentioned that he has not been able to challenge his hypothesis regarding alpha-MSH secretions in redheads since testing this hormone is expensive and difficult due to circadian rhythms.

Wait, redheads have a higher pain tolerance? Alright, which is it?

It is important to note that the media can often misinterpret information. For instance, in August 2005 there was a media release stating that studies demonstrate that redheads have a higher pain tolerance which would conflict with Dr. Liem’s findings above; however; this information was not put in the correct context by the media. The correct context is that redheads have a higher pain tolerance over others WHEN they are drugged up on an opioid medication called pentazocine. At an August 2005 press briefing Professor Ian Jackson of the Medical Research Council’s Human Genetics Unit in Edinburgh quoted a 2003 study conducted by Jeffrey Mogil et al. In this study, it was concluded that when female redheads were administered the opioid medication pentazocine, they demonstrated a significantly higher pain threshold. This medication was not as effective on red-haired men nor on those individuals with a higher ratio of brown-black pigment. It was postulated that the medication not only stimulates opioid receptors in the central nervous system which reduces pain, but that it may also somehow prevent the pain increasing effect of alpha-MSH (a hormone that may be excessive in redheads) by blocking it from binding with the melanocortin receptors, MC3R and MC4R. The combination of stimulating the opioid receptors and blocking the stimulation of the MC3R and MC4R dramatically increases the effect of the medication.

More simply put, if you are a hot redheaded female in desperate need of an opioid pain killer, you might get a better fix on penatazocine. Of course I'm joking, I do not advocate drug use, as the adverse affects of pentazocine are similar to that of morphine. Also, as with many other opioid medications, pentazocine is addictive.

Dental Pain

On August 6, 2009, an article appeared in the New York Times called The Pain of Being a Redhead by Tara Parker-Popeimes. It highlighted a new study which appeared in The Journal of the American Dental Association. This article brought the whole redhead and pain issue to the forefront again. Participants in the study completed surveys that measured “general and dental care–specific anxiety, fear of dental pain, and previous dental care avoidance.” The authors tested the participants’ blood samples to detect gene variants associated with natural red hair color. The conclusion was that redheads were more than twice as likely to avoid dental care as were the participants without red hair, even after the authors made adjustments for general anxiety and sex.

It's interesting that the results of this study do not distinguish between red-haired males and females as the others do. It indicates that the effect was observed in both sexes. I'd be curious to know what adjustment they made for sex. I guess I'll have to pay to download the full study then! I'll keep you posted.

What's Your Pain?

Pain can manifest in so many different ways and differently in different people. So as a redhead, are these findings true for you, and if so, how does your pain manifest itself? Somebody mentioned to me last weekend that they had a redheaded friend who stated with pride that she went through labor without an epidural. To that, I say……go girl!......are you frickin’ crazy?........And why am I not more like you?

The findings regarding sensitivity to temperature are interesting. I tend to get cold very easily, but that is fairly normal for many women. Female circulation generally runs closer to the organs, while male circulation runs closer to the surface muscles. I’m also very thin and have little insulation. When I’m at one of my friend’s parties on their deck overlooking a glorious Bay Area view, I always seem to be huddled up in a hat, sweater, and gloves, while others are baring their legs. One of those more scantily-clad lassies is often my redheaded friend Sue, who never seems to get cold at all.

As a kid, my dentist drilled into my teeth without any shots or gas at all. I distinctly remember being tortured and pushing his hand away when it hurt, but I would think that would be normal for anyone. My current dentist numbs me up just fine for crown work, but I still hate going. Again, isn’t that normal?

For me, the physical pain that I had to overcome in my life had something to do with why I waited until my thirties to lose my virginity – yes, painful intercourse. It’s not something that I’m particularly excited to advertise to the world on my blog, but after reading a couple posts on the NYT article from a few other female redheads who have had a similar problem, I feel the need to share my journey for their sake and any others who can benefit from this information. Unfortunately, this topic is as shameful to discuss as menopause was many years ago. So it's about time to bring it out in the open for the purpose of healing.

The main cause of painful intercourse is usually a tight vaginal opening. Some women also are born with their urethra closer to the vaginal opening than other women, which also contributes to the discomfort. My advice in this situation is as follows:

1. Treat Infections: Make sure that any urinary or vaginal infections are treated. Drug stores sell test strips for both now. Some great infection prevention techniques are Jarrow's Fem-dophilus supplement and boric acid vaginal suppositories like Vitanica's Yeast Arrest.

2. Hygiene: Soaps can be very drying and irritating to the vagina, urethra, and rectal areas. Wash the vaginal and urethra area with a gentle pH-balanced cleanser like Sweet Spot. A proctologist told me to clean the rectal area with nothing but a good spray of water in the shower and to clean with moistened cotton medallions after bowel movements as toilet paper can be too rough. I remember thinking, really? Hey, it worked! Irritation gone.

3. Diet: Drink lots and lots of water, eat a healthy diet of whole foods, and avoid caffeine and acidic foods, which can irritate and cause discomfort to the bladder and urethra. They always recommend cranberry juice for urinary tract infections, but I find that it can be quite irritating and make you think you have an infection when you don't! Try a D-Mannose supplement to get the benefit of cranberry without so much of the acid. Common bladder irritants are: coffee (even decaffeinated), caffeinated tea, caffeinated soda, alcoholic beverages, medication with caffeine, chocolate (that's a tough one), smoking, acidic foods, citrus juices and fruits, tomatoes and tomato-based products, artificial sweetener, highly spiced foods, milk and milk products, sugar and honey, corn syrup, and cranberry juice. And if you happen to partake in the above (because let's face it, who can refuse chocolate?) just be sure to cut it with water, water, water.....

4. Physical Therapy: Get a referral from your gynecologist to a physical therapist that specializes in vaginal exercises. Yes, they actually have physical therapy for painful intercourse now and thank God! Usually, these types of physical therapists also work with women on incontinence issues.

5. Sex Toys for Stretching and Pleasuring: Purchase Dr. Berman’s vibrator dilator which starts small and can adjust gradually to larger sizes. This vibrator also works well for physical therapy.

6. Exercise: Take a yoga class. Poses such as lunges, triangles, and warriors stretch, open up, and strengthen the hips and the pelvis. Pilates is awesome too!

7. The Best Mate: Find a mate who understands, who is gentle when you need him to be, rough when you want him to be (if this pleases you!), and who loves to give and receive oral sex for variety and more options.

8. Lube up: If needed, transfer your lube into a pump container by the bed for ease of use and spontaneity. My therapist recommended Slippery Stuff, but Collective Well-Being Good Glide is my personal favorite.

9. Topical Lidocaine: Your gynecologist can give you a topical lidocaine gel that you can use a few hours before intercourse or apply a small dose daily. Dr. Liem's experiments indicate that topical lidocaine is effective on redheads.

10. Surgery: Worse comes to worse, you might need to ask your gynecologist to surgically cut your hymen to open up the space, but I encourage you to try the physical therapy first. The cut may cause some scar tissue which is less flexible and could also cause discomfort during intercourse.

I’m very happy to report that I have achieved the elusive vaginal orgasm to my surprise and satisfaction several times. So please know that there is hope out there! My physical therapist said that fairer-skinned individuals tend to have less flexible tissue, yet again one of those anecdotal observations about redheads that I always hear. Another one is from the gynecologist who always tells me that redheads are bleeders, but more on that later. So stretch, stretch, and stretch again! If you can’t get physical therapy, please write me, and I will copy the exercises into a PDF and forward them to you. And remember if I can do it, so can you.

Just for the record, if fate decides to make me a mother one day, screw natural labor - I want the frickin’ epidural and I want to give birth in a tub of water as I hear that can ease the pain too!

Friday, August 7, 2009

The Red Hair Factory

So a mutation in the melanocortin 1 receptor gene, or MC1R, causes red hair. But how and why exactly?

Let’s break it down into a simple economic analogy by using the principle of supply and demand. In a person who can tan, the demand is the external environment, or the sun. The supply is darker skin pigment, which provides more UV protection. The skin is suddenly exposed to the stress of the sun, perhaps on a beach in Maui (sigh I wish!). So it needs to produce darker pigment to protect itself from being burned. The CEO and the COO of the pigment-producing corporation are the pituitary and hypothalamus glands in the brain. This corporation has several subsidiary pigment-producing factories called skin melanocyte cells. Together the CEO, the COO, and the factories sound an alarm by producing a hormone called the alpha melanocyte-stimulating hormone, or alpha-MSH. This alarm and message reaches all of the factory managers in the subsidiary factories and instructs them to increase production of darker pigment. The managers get on the factory intercom, or the melanocortin 1 receptor (MC1R), and relay a broadcast to their assembly lines, or melanosomes, within the factory. The factory managers instruct the assembly lines to shift production from a lighter red/yellow type of pigment (pheomelanin) to a darker brown/black type of pigment (eumelanin). This process is called tanning. The factories also produce other products, such as nitric oxide, serotonin, melanocortins, catecholamines and inflammatory cytokines. These substances indicate that these factories also play an important role in immune function and in communicating between the skin and the central nervous system.

The Broken Intercom

So the above is what is supposed to happen when skin is exposed to the sun, but why does this not happen to redheads? Why do we not tan? There are any number of places where the system can break down. Specifically, the problem for the vast majority of redheads is in the intercom or MC1R. The factory manager receives the message and relays the broadcast over the intercom, yet nothing but static comes out on the other end to the assembly line (kind of like the glitchy intercom in one of the Dharma Initiative hatches on the TV show Lost). It’s like there is a short in the MC1R electrical wiring. Completely oblivious to the orders of all of their superiors, the assembly lines just keep making red/yellow pigment which is less photo-protective, burns more easily, and is more susceptible to melanoma and non-melanoma skin cancers. Basically, we get sunburned, dammit! Scientists have discovered five unique kinds of electrical shorts in various locations throughout the MC1R wiring which causes red hair. Apparently, there are other variants in the MC1R intercom which hold the mystery of the genetics of blondes and brunettes as well. Scientists are still perplexed about dark hair, pale skin, and freckles.


Negative Feedback Loop


So when the redhead intercom doesn’t work, and the factories don’t produce the darker pigment, then what happens? Well, some people think the CEO and COO in the brain find out about it in a negative feedback loop and get kind of pissed off. I mean, wouldn’t you also be upset about such blatant insubordination? And they keep sending orders out, via alpha-MSH, to ask “What the hell is going on? Produce more darker pigment now!” So theoretically, if this is true, there would be extra alpha-MSH circulating throughout a redhead’s body, causing a slight hormonal imbalance which has unforeseen consequences in other areas. This is because alpha-MSH has multiple jobs. For example, another job it has is to send messages to increase one’s sensitivity to pain, which it sends to different types of intercoms and receptors that are still functioning quite well within a redhead’s body. Plus its still unclear whether this genetic electrical short may affect the other products that the factory produces. But more of this anon in future blogs!

Other Factors in the Pigment Production System

Other issues that can come up in the production of pigment are as follows:

Raw Materials:

Phenylalanine
Darker pigment is made from phenylalanine, an essential amino acid or protein that comes from wheat, dairy and oats. Malnutrition of this amino acid can cause red hair. I had an acquaintance who adopted a child in Iran. The child was a redhead who suffered from malnutrition. After a few months of proper nutrition, the child turned from a redhead into a brunette! Have you ever heard of red fur syndrome in black cats? Cat food with higher contents of phenylalanine will usually solve the problem.

Sulfur and Other Minerals
Levels of sulfur compounds such as glutathione and cysteine and minerals such as copper, zinc and iron are important components to the production of red/yellow pigment. Higher levels of these substances may cause increased production of lighter pigment over darker pigment. Since redheads are genetically short-wired to predominantly produce red/yellow pigment, which oxidizes easily and needs to be replaced frequently, they will more than likely use up more glutathione or cysteine in their pigment production. Taking a multi-vitamin/mineral supplement along with N-Acetyl-L-Cysteine supports proper pigment production for the fair-skinned and benefits the skin, hair, as well as the liver.

Lack of Proper Tools: The assembly lines, or melanosomes, need specific proteins and enzymes to produce pigment from the raw materials. Lack of these proteins or enzymes can cause red/yellow pigment to be produced or can even cause albinism or a lack of pigment.

A brief digression.....
I wish that I could go back to the age of 10 with this scientific knowledge and debate this point with a boy called Eric. Eric had gotten into the habit of calling me an albino during our many carpools to church youth club. As he would insult me, he would also recline the front car seat onto my knees as I sat in the back seat. Apparently, infuriating me at this age was entertaining to him and others. Eric was (and likely still is) one of those super-geeks who the teachers allowed to set off rockets in the playground as the entire school gathered around and watched in anticipation. Rumor had it that he had an FBI record in his teens for trying to build a bomb with his chemistry set; however, it seems that this rumor might bear some merit as the source was my high school chemistry teacher. Eric was very likable and popular in his geek-dom. I would even go as far as to say that he had a bit of a Spock-like appeal, which was particularly evident in his brow and his manner of speaking. He used to memorize his fellow band members' license plate numbers and recite them for fun, "Kymie, 3RNK036". I remember confronting him about the albino comment later on. To which he replied that ladies used to put arsenic in their tea to make their skin appear as porcelain as mine. Was this his geeky way of flirting with me?

anyway back to the assembly line....
Size of Assembly Lines or Melanosomes: The bigger the assembly lines, the more dense and darker the pigment. Those who have darker skin genetically have bigger melanosomes.

Old Dilapidated Factories: Old melanocyte cells that do not operate properly tend to produce gray hair. Gray hair occurs when melanocyte cells within hair follicles stop producing melanin. Scientists don’t know really know why hair turns gray for some especially as they grow older, but they believe it is based on genetics inherited from parents. It is possible that a thyroid problem, vitamin deficiency, and smoking can accelerate hair turning gray as one gets older.

The Assembly Line Environment: Darker pigment requires an alkaline pH within the melanosome; whereas, lighter pigment requires a more acidic environment. When you are sick, the melanosomal environment tends to become more acidic and your skin becomes a sickly pale.

The Message Itself: A genetic lack of the proopiomelanocortin hormone (POMC), the precursor or prohormone to alpha-MSH, will cause production of red/yellow pigment, adrenal insufficiency, and early onset obesity

The Message Gets Blocked: The agouti-signaling protein intermittently blocks or intercepts the message that goes to the factory managers, but this seems to only apply in mice, not in humans.

Phew! Who knew that red hair was so complicated? Well, I knew and so did you. And I'm glad that science is finally catching up and helping us understand ourselves better. You are all beautiful complicated mutations of nature, and I love you all.

Thursday, May 28, 2009

The Benefits of Fair Skin – Vitamin D?

Dark skin provides extra UV protection from the sun; whereas, fair skin is less photo-protective, burns more easily, and is more susceptible to melanoma and non-melanoma skin cancers. While the genetic disadvantages of red hair and fair skin are commonly known, the genetic advantages or benefits aren’t as clear.

The sun is not as direct and penetrating in the north as it is in equatorial climates. One theory suggests that fair skin was suppressed in equatorial climates where dark skin is needed for survival; however, in the northern climates where dark skin is not as crucial to survival, fair skin was genetically allowed. Genes for fair skin continued on because they were perceived as sexually attractive; this is also called “sexual selection.” Like I said before, someone always wants to have sex with us redheads!

But a more common theory is that fair skin evolved to allow the skin to more easily synthesize the necessary nutrient Vitamin D with less sunlight exposure in the northern climates. Originally it was thought that Vitamin D’s main function was to assist the body in calcium absorption and ensure bone health, but recent studies within the past ten years on Vitamin D show that every cell and tissue needs vitamin D for its well-being. Underexposure to the sun can cause a vitamin D deficiency, which can lead to many health issues including rickets, osteomalacia, osteoperosis, high blood pressure, tuberculosis, cancer, periodontal disease, multiple sclerosis, chronic pain, seasonal affective disorder, peripheral artery disease, cognitive impairment which includes memory loss and foggy brain, and several autoimmune diseases including type 1 diabetes.

Since you’re a redhead who burns easily and is likely genetically at risk for melanoma and non-melanoma type skin cancer, you probably limit your exposure to the sun. Either that or like most Americans, you are inside working most of the day and don't have much of an opportunity to sun bathe. So what can you do to ensure that you get enough Vitamin D, yet do not risk skin cancer?

A little sun never hurt anyone - even a redhead! Depending on the latitude where you live, your skin type, and the time of day, five to fifteen minutes of unprotected direct sunlight daily can be beneficial and safe, but no more than that. It’s probably best to expose the arms, legs, and torso as opposed to the face where sun damage accumulates more easily over the years and takes away from that wonderful alabaster complexion. For longer exposure in the sun, it’s vital to take proper precautions with chemical and estrogen-free sunscreens, hats, shade, and antioxidants such as beta-carotene, vitamins E, C and B-complex, Biotin, Folic Acid, and bioflavonoids. Don't forget to protect the tops of the hands! For those that are at greater risk for developing skin cancer, Vitamin D rich foods and supplementation may be a preferred method to ensure adequate levels of Vitamin D. I personally love to go to Chinatown in San Francisco and pick out a nice Chinese parasol. It's perfect for those unbearable scorcher days. It gives aeration around the head, makes a fashion statement, and makes you feel like you are living in a Masterpiece Theater Classic episode. Do people look at you funny? Yes, but you are a redhead, and you are used to it. For more information about the proper amount of sun exposure depending upon skin type, latitude, and time of day, please refer to Dr. Hollick's book, "The UV Advantage."



Eat foods high in Vitamin D:
Dietary sources of Vitamin D such as cold water fish, cod liver oil, butter and egg yolks can be an alternative source to the sun. Vitamin D fortified milk is not the best source for Vitamin D. Milk is usually fortified with the D2 form of vitamin D which is less absorbable, and lab tests have shown that the vitamin D levels in the milk are not nearly what is advertised, especially for vitamin D fortified skim milk. Vitamin D is a fat soluble vitamin and some fat is needed as a nutrition co-factor to absorb it efficiently.

Get a Vitamin D Test: Your physician or gynecologist can periodically request a blood test for Vitamin D levels. The test should specifically be a 25(OH)D or also called 25-hydroxyvitamin D. An optimal range is considered to be between 50-65ng/ml. I had mine tested in December, and it was down to about 21ng/ml! Vitamin D levels tend to be lower in the winter months.

Vitamin D Supplementation: There are also Vitamin D supplements that you can take. It’s best to take the Vitamin D3 form. A normal dossge of 1000 IU should be safe, If you test low in Vitamin D, you may need a higher dosage. I take Carlson’s Solar Gems 4000 IU daily. I’m getting my Vitamin D levels retested soon, so I’ll let you know if it worked. While excessive exposure to the sun gives you a sunburn, it does not result in Vitamin D toxicity. Vitamin D supplements can cause Vitamin D toxicity if you are not careful, so its important to get your levels tested regularly if you choose to supplement.

Monday, December 8, 2008

Are Redheads Descended from Neanderthals?

In 2003, Dr. Rosalind Harding, a quantitative geneticist from the Institute of Molecular Medicine at Oxford, estimated that the age of the red hair variants or alleles of the Melanocortin 1 Receptor gene were as follows:

Assumption 1: If MC1R red hair variants evolved in a human population of constant size, then the gene could be approximately 40,000 years or older and may come from a Neanderthal origin.

Assumption 2: If MC1R red hair variants evolved in a population that has been expanding exponentially, then the gene could be less than 40,000 years old and may come from early humans or Cro-Magnon.

Assumption 3: If MC1R red hair variants were under positive selection or favored in evolution then the gene can be as young as 10,000 years.

The mere suggestion that redheads are descended from Neanderthals may offend you or if you have more genetic knowledge, you might think it genetically impossible. For a while, I have to admit that I was quite intrigued by the idea of being descended from Neanderthals. I thought that it might explain why I always felt like an alien. If redheads were “the others’ (to use a Lost reference) then that might explain why people have been superstitious about us throughout time. Then again, our pitiful numbers (2% of the world’s population) may also be the cause for superstition.

However, with the publication of the October 2008 issue of National Geographic, the Neanderthal-Redhead connection was supposedly “myth-busted.” Researchers conducted DNA tests on Neanderthal remains and while it was discovered that they were indeed redheads (very exciting!), apparently they had independently evolved their own red hair variants that were completely different than the human red hair variants. If both Neanderthals and humans independently evolved red hair variants, then this may support that there is an evolutionary advantage to red hair, such as the ability to produce more vitamin D with less sunlight exposure.

But, for some reason when I read this, I still did not want to let the Neanderthal-Redhead theory go. They haven’t DNA tested every single Neanderthal that walked the earth. For all we know, maybe Neanderthals had triple the red hair variants than humans have. Humans may have only inherited 5 of the Neanderthal's multiple red hair variants and did NOT inherit the ONE Neanderthal red hair variant that scientists just happened to discover on that particular day. But who am I to argue with scientists?

Then in January 2010, Alan Alda hosted this great series on PBS entitled "The Human Spark". Apparently, what distinguishes early modern humans from Neanderthals includes the human ability to be more innovative with technology, their complex human social structure, and their ability to be artistic. So then it seemed like the Neanderthal-Redhead connection was very unlikely because, as you know already, redheads are some of the most artistic and technologically and socially savvy humans there are. So I threw my arms up and gave up UNTIL......

The October 2010 edition of Discover magazine states that early humans and Neanderthals mated after all! Evolutionary geneticist Svante Paabo and colleagues at the Max Planck Institute for Evolutionary Anthropology in Germany analyzed DNA fragments from Neanderthal bones and traced Neanderthal and human interbreeding back by 60,000 years to the Middle East. Apparently, 1 to 4 percent of the human genome outside of Africa is Neanderthal!!! The gene flow between humans and Neanderthals most likely occurred as humans were migrating to Europe, Asia, and New Guinea.

Now the question is whether the 1 to 4 percent of the human genome that is Neanderthal in origin includes the 5 human red hair variants of the MC1 receptor gene, which are responsible for creating about 2 percent of the world's population -- Redheads!

Um......or something like that....? Ow, my brain, it hurts.

Sunday, December 7, 2008

Red Hair Inheritance

If both parents provide a red hair allele of their MC1R gene, the child will have red hair. If one parent provides a red hair allelle and the other parent provides a non-red hair allele, the chance of the child having red hair increases but is not a certainty. Sometimes if only one red hair allele is present, the red hair may show up in a less obvious manner, such as highlights in a beard.

My Mom is an Italian-Polish brunette with an olive complexion, and up until my Dad lost all of his hair in his thirties, he was a fair-skinned Czech blonde. BUT my Aunt Delores on my mother's side was a redhead. From that, I know for certain that at least one of my red hair alleles came from my Grandpa Leo, the Italian. Sometime in the 1950s, Grandpa Leo, Grandma Helen and Uncle Ronny traveled to Grandpa's home town of Lucca, Italy. Grandma Helen used to tell me that many of my cousins there had red hair. Since Grandpa Leo had about 15 brothers and sisters, I imagine there may be quite a bit of redheads in the larger family by now. Grandma Helen was also very surprised to board a bus in Lucca to find it full of redheads! So I guess that's where Titian got his inspiration!!! Incidentally, I also had a great uncle that delivered bread to Puccini's house in Lucca. Every time anyone in my family hears or sings Puccini, we all break down crying including me at a recital about 13 years ago, but that's another story.

Regarding my Dad's side of the family, he doesn't seem to recall any redheaded relatives, but according to the above, a red hair allele from one parent may dominate the fair-blonde allele from another parent so that the red "shines through". I recently read my Grandma Anna's journal. About 100 years ago, she worked 7 days a week, 12 hours a day, farming sugar beets and working in a sugar factory in Prisnotice, Moravia. She moved to the United States, studied English and Italian, and became one of the first social workers in Pittsburgh, PA. She assisted immigrant workers and their families, many of whom were injured in steel mills and coal mines. So to me, Grandma Anna Hornicek Sirney is an honorary redhead for her courage, love, hard work, and inspiration.

So where does your red hair inheritance come from?

Red Hair Gene Discovery

In 1995, the Department of Dermatology at Edinburgh University headed by Professor Jonathan Rees successfully identified the gene responsible for pigment production, the melanocortin 1 receptor. The melanocortin 1 receptor gene or MC1R is a genetically encoded protein that all humans have in pairs, one donated by each parent. Professor Rees and his lab discovered that four to five common variations of MC1R are responsible for the production of red hair. All of the red hair variants (or alleles) of the MC1R gene cause the receptor to not function.

When I first started venturing down the path of studying the relationship of red hair to health, I was so excited to find out about the discovery of our red hair variants! Because red hair is a relatively rare mutation, it makes it easier for scientists to spot. The last I checked they still were trying to isolate blonde hair variants; and the combination of pale skin and dark hair completely perplexes them.

When you do a search on PubMed, there are so many studies published about MC1R. When I first delved into this research, I was completely overwhelmed and didn't understand a dang thing I read. Only after taking a human physiology class, was I able to begin understanding the studies about MC1R. My challenge in this blog will be to convey the information that I have learned in an understandable way. So if I don't make sense or you go "huh?" - just let me know.

Monday, November 17, 2008

Redheads: The Counter-Curse

Since the discovery of the red hair gene by the Department of Dermatology at Edinburgh University in 1995, various health studies have been conducted about redheads and the MC1 receptor gene (MC1R). MC1R is not only responsible for regulating skin and hair pigmentation, but it also plays a role in inflammatory and immune response. Since MC1R essentially does not function in redheads (the cause of red hair), there are possible health consequences for a redhead. In addition, Dr. John Gray at the Oxford Hair Foundation has speculated whether redheads face extinction by the year 2100.


As a redhead who has faced and overcome health challenges and who studied nutrition at Bauman College of Holistic Nutrition and Culinary Arts, I feel it is important for me to start this blog entitled, Blessed with Red: The Redhead’s Guide to Thrive. Why call it Blessed with Red? Well, since childhood, I always felt that my red hair was a curse, and Dr. John Gray's impending prediction of doom certainly does not help matters. So I consider this blog to be my counter-curse! In spite of our dwindling numbers (approximately 2% of the world’s population) and possible health issues, I see no reason why redheadkind can’t survive and thrive for centuries to come. I mean, let’s face it. Someone always wants to have sex with us, which passes the gene onto future generations, and a little self-love and self-nurturing go a long way!


The goal of this blog is to:

  • Connect with other redheads and share health experiences
  • Share redhead health research (published studies and anecdotal observations)
  • Suggest possible dietary and lifestyle solutions to better manage redhead health throughout the years


In my research of published studies and anecdotal observations, the following health issues have been most commonly associated with red hair and/or MC1R. Please feel free to share your experiences about any of the following health topics (and if there is something that I’m missing, please feel free to share that too!):

  • Skin issues: cancer, eczema, dermatitis, rashes, hives, skin infections, etc.
  • Allergies or sensitivities: inhalant, food, chemical
  • Digestive issues: Celiac Disease, Irritable Bowel Syndrome, etc.
  • Multiple Sclerosis
  • Low pain tolerance
  • Sensitivity to temperature
  • Frequent bruising
  • Post partum hemorrhage
  • Endometriosis
  • Attention Deficit/Hyperactivity Disorder
  • Drug or alcohol addictions
  • Pigmentary Glaucoma


I look forward to hearing your stories!