There has recently been a series of posts on the blog Age of Autism written by Teresa Conrick on the relationship between melanin levels and autism, as well as other neurological conditions. I have wondered about this myself as I have albinism, Roo has very pale skin (identical to mine) that doesn't tan, yet his older, NT brother has a much darker complexion and tans very easily. Apparently this pattern is common in ASD families. I began reading about this connection on the Facebook group "Redheads and Autism" which was started by Ginger Taylor, herself the mom of a child with autism with bright red hair. Many people have noticed that there seem to be a relatively high number of people with autism with red hair compared to the the percent of the general population who has red hair.
This is the first piece in the 3-part series, called Autism and Redheads: the Canaries in the Epidemic, Part 1.
From the author of the post:
"So here is my hypothesis. It includes both anecdotal evidence and published studies. If it is possible that redheads are more vulnerable to an autism diagnosis and therefore more prevalent on the autism spectrum, I believe that looking for the reasons for that could open doors on causation and possible treatments, not only for that population but for many others."
From a study quoted in the post:
""Neuronal pigments of melanic type were identified in the putamen, cortex, cerebellum, and other major regions of human brain. These neuronal pigments have some structural similarities to the melanin found in skin. Furthermore, the resulting melanic component serves an additional protective role through its ability to chelate and accumulate metals, including environmentally toxic metals such as mercury and lead...."
From another study, this time about Tourette's:
"A causal association between red hair and melanocortin-1 receptor has been shown, and is the only gene that is known to explain physiological variation in human pigmentation. Melanocortins are believed to be involved in many disease states including pigmentary disorders, adrenal disorders, obesity, anorexia, prolonged and neuropathic pain, and inflammatory response""
From the author of the post:
"In humans, melanin is found in the skin, the hair, the eyes, the adrenal gland, the inner ear, and in pigment bearing neurons deep within the brain nuclei."
From a study looking at melanin in Parkinson's Disease (PD):
"Now why would light hair color yield greater risk for PD (Parkinson's Disease)? The chemical that determines hair and skin color is melanin. A major problem of PD is an abnormal loss of melanin-containing cells within the brain region that produces dopamine—the substantia nigra. Neuromelanin helps to scavenge up toxic chemicals in the brain like free radicals, active metals (eg, iron), toxic metals (eg, mercury and lead), and organic toxic compounds (eg, pesticides).
And this, from a study looking at melanin in Macular Degeneration:
"Chemist James Norris, Ph.D., and retina surgeon Kourous Rezai, M.D., combined resources to show that melanin, a pigment found throughout the human body, acts like a neutralizing sponge inside cells in the retina to soak up and destroy reactive oxygen species."
Click here for part 2 of the series.
Interestingly for our family, the author mentions a possible connection between low melanin and both skin tags and cafe au lait spots. Roo was born with a cafe au lait spot, and bot his dad and I have skin tags. I have heard that some people have had skin tags go away after supplementing with cysteine so perhaps melanin is related to some of the biochemical processes involving cysteine.
The author moves on to discuss albinism, which I have. Here are several quotes from a study looking at melanin and mercury from skin lightening creams:
""In the present study, we investigated the dermal absorption of mercury and its accumulation in the tissues of albino and pigmented mice treated with two brands of mercury containing skin-lightening creams for a period of one months at different intervals. Mercury levels were measured in a total of 133 and 144 liver, kidney and brain tissue samples of albino and pigmented mice. Significant differences in the mercury levels were observed between the albino and pigmented mice. This emphasizes the protective role of melanin against mercury toxicity.""
From another study on the subject:
"Inorganic mercury compounds are also widely used in skin-lightening soaps and creams, due to the ability of the mercury cation to block the production of melanin pigment in the skin."
And from another study:
"The pharmacologic activity of the skin-light-eners occurs as the mercury blocks the production of melanin pigment in the epithelial melanocytes, thus lightening the skin over time."
This is from a study looking at heavy metal exposure to fish:
"Heavy metals (As, Cd, Cu, Hg, Se, Zn) were shown to increase the incidence of albinism. Metal-induced albinism resulted from exposure of both adult fish and eggs."
Wow...that's a pretty amazing thing to find. It has been clear to me for awhile that Roo's issues have their root in familial patterns of illness including my grandmother's Celiac disease, my auto-immune problems and chronic inflammation, the HHV-6 virus that he may have received from me congenitally, and the fact that I didn't have a gallbladder while pregnant with him, but I'm surprised to think that my albinism could be the result of mercury poisoning that may have also been passed along.
Click here for part 3 in the series.
The author talking about Mastocytosis:
"Urticaria Pigmentosa needs some clarification as it has some very pertinent pieces. It actually goes by another name and one that some of you may have read about in the news two years ago -- "Autism is five to seven times higher in patients with a rare disease called mastocytosis, a discovery that may have just uncovered a vital clue to a biological cause that contributes to autism, according to a recent published report authored by a Brookline researcher."
More on mastocytosis:
"We report that the apparent prevalence of ASD in patients with mastocytosis, a rare disease occurring in 1/4,000 children and characterized by an increased number of hypersensitive mast cells in many organs, is about 1/10 or 10 times higher than the general population....(a)llergic, infectious, neuroimmune and environmental triggers may activate mast cells to release vasoactive, inflammatory and neurotoxic molecules. These could disrupt the gut-blood-brain-barriers, and/or activate susceptibility genes, thus contributing to brain inflammation and ASD."
That seems pertinent to our family as we have high histamine levels. This next quote seems even more relevant:
"Mast cells, by virtue of their location in the skin, respiratory tract, and gastrointestinal system are potential targets for environmental agents with immunotoxic effects [22]. Mast cells are critical not only for allergic reactions, but also important in both innate and acquired immunity [23], as well as in inflammation [24]. In view of the fact that a subgroup of ASD patients have allergy symptoms that do not appear to be triggered by IgE, it is noteworthy that mast cells can be stimulated by non-allergic triggers originating in the gut or the brain.....The results of the present study support the biological plausibility of how mercury could contribute to ASD pathogenesis by inducing VEGF (vascular endothelial growth factor) and IL-6 release from mast cells, and as a result disrupt the BBB and thus permit brain inflammation."
The author of the posts ends with a plea for more research, as there clearly seems to be relevant information in these studies that needs to he followed up on and put together in a more coherent manner.
