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
* Borborygmi (stomach rumbling)
* Coetaneous bleeding
* Easy bruising
* Epitasis (nose bleeding)
* Failure to thrive
* Fatigue or general weakness
* Fluid retention
* Foul-smelling or grayish stools that are often fatty or oily
* Gastrointestinal symptoms
* Gastrointestinal hemorrhage
* Hematuria (red urine)
* Hypocalcaemia/ hypomagnesaemia
* Iron deficiency anemia
* lymphocytic gastritis
* Muscle weakness
* Muscle wasting
* No obvious physical symptoms (just fatigue, overall not feeling well)
* Pallor (unhealthy pale appearance)
* Panic Attacks
* Peripheral neuropathy (nerve damage)
* Stunted growth in children
* Vitamin B12 deficiency
* Vitamin D deficiency
* Vitamin K deficiency
* Voracious appetite
* Weight loss
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:
Gluten Free Girl and the Chef Blog
Dr. Doherty's C-liac Vitality Supplement Packets