By Teresa Conrick
I am a redhead, as many know, and my severely autistic daughter, Megan, is as well. Over the years I have read articles, studies, blogs and historical accounts about autism, and it occurred to me that there seemed to be a noticeable number of redheads who also had an autism diagnosis. For example: Time Magazine Cover, Same child in Time again, Hannah Poling, Megan Conrick. I saw them and made a mental note but it wasn't until recently that I started to delve into why that might be.
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.
My first thoughts about the possible mechanism that makes redheads unique had to do with obviously hair color but also skin. Redheads are usually very fair-skinned, blue-eyed and tend to burn in the sun. There are, though, a "spectrum" of redheads who have some of these factors, but differ IN OTHER WAYS. Some can have brown eyes OR green eyes and some can tan, but the majority share the common thread of LOW MELANIN. That then became my research road - melanin - and my hypothesis IS that those with insufficient or dysfunctional melanin were more at risk of succumbing to the medical and behavioral symptoms that currently are called "autism". My initial look into this brought me to many studies which sure looked to strengthen my hypothesis. Note that these studies tend to deal with other, yet SIMILAR, neuro-degenerative diagnoses. Here are Parkinson's Disease and Alzheimer's Disease:
"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...... the neuromelanin concentration normally increases linearly with age. In Parkinson's disease, the tissue concentration of neuromelanin decreases dramatically because DA pigmented neurons are preferentially lost compared with nonpigmented ones. Reduced neuronal content of neuromelanin in substantia nigra has been reported in patients with Parkinson's disease, Alzheimer's disease, and Rett syndrome."
"New melanic pigments in the human brain that accumulate in aging and block environmental toxic metals" HERE
Well that seemed interesting and pertinent plus it included Rett's disorder, a DSM autism subset. Much research on Rett's has been in the "just genes" domain so here was something else, like "toxic metals" and "chelate", that indicated environmental factors needed to also be addressed. This next one then added more dimension to that idea and again included chelation (metal binding capacity) as a role of melanin:
"Sepia eumelanin is associated with many metal ions, yet little is known about its metal binding capacity and the chemical nature of the binding site(s). Herein, the natural concentrations of metal ions are presented and the ability to remove metals by exposure of the melanin granules to EDTA is quantified. The results reveal that the binding constants of melanin at pH 5.8 for Mg(II), Ca(II), Sr(II) and Cu(II) are, respectively, 5, 4, 14 and 34 times greater than the corresponding binding constants of these ions with EDTA. These observations imply the existence of channels within the melanin granules that can serve to transport metal ions."
"Ion-Exchange and Adsorption of Fe(III) by Sepia Melanin" HERE
Here then is more evidence to this theory - that individuals, redheaded or not, who have low or damaged melanin, are at risk to a host of illnesses and diseases that often are called "genetic" rather than "environmentally induced". Autism is quite possibly one to be added to that list. Here is another pertinent researcher seeing a connection to melanin and two different but quite probably related conditions: "Xiang Gao, MD, PhD, of Harvard Medical School, has long been investigating how melanin, which creates pigmentation, relates to Parkinson’s disease. He speculates that the two diseases (melanoma and Parkinson's) share common genetic components. In a previous study, Dr.Gao found that having light hair (a known risk factor for melanoma) puts people at twice the risk for Parkinson’s. Dark-skinned races have the lowest incidence of Parkinson’s, while Caucasians are at the highest risk." "Melanoma and Parkinson’s — New Evidence Makes a Surprising Connection" HERE
He explains that there is a small structure in the mid area of the brain called the substantia nigra — it contains most of the brain’s dopamine and its main function concerns body motion. Hallmarks of Parkinson’s disease include loss of dopamine and highly impaired motor function. In people who do not have Parkinson’s disease, the substantia nigra is dark because it contains a high level of melanin, whereas in people with Parkinson’s, the area fades to gray or white."...... "People with light skin and red hair likely produce less melanin — and we now know they are at higher risk for Parkinson’s and melanoma."nter a recent post on Age of Autism that made me wonder more about this melanin connection: " In The Best Kind of Different, Shonda Schilling, the wife of Major League Baseball All Star, former Boston Red Sox, and World Series championship pitcher Curt Schilling, shares the story of their son’s Asperger’s Syndrome, how it changed their lives, and what other parents can learn about this increasingly common diagnosis.Shonda is a survivor of melanoma, an experience that led her to create the Shade Foundation of America." Their son is a redhead. HERE
Here also was evidence that Amyotrophic Lateral Sclerosis (ALS), like Parkinson's, had a connection to melanin/melanoma.
"Australian researchers evaluated rates of death in patients with ALS or PD in a cohort of 127,037 patients who were diagnosed as having a primary invasive melanoma between 1982 and 2001, and who survived for at least 1 year.
"Controversy: Melanoma and Neurodegenerative Disease" HERE
Compared with the general Australian population, the melanoma patients had a 70% higher risk of death when ALS was present (SMR = 169.4 [95% CI, 127 to 221]) and a nearly 3-fold higher risk of death when PD was present (SMR = 266.3; 95% CI, 222 to 237]). The investigators pointed out that the consistency between these findings and those in the US population strengthened the evidence of an association between melanoma and both ALS and PD."
This then seemed to be a road to somewhere that autism needed to be on. I began to look for other diagnoses that like autism, had neurological-environmental implications and that overlapped. One of those is Tourette's as we often see similar symptoms - motor and vocal tics that are often "idiopathic", very much like autism. Here then was another redhead-melanin connection:
"Tourette syndrome occurs worldwide and the clinical features are similar irrespective of the country of origin, with genetic causes suspected, but to date not proven. A link between red hair colour and Tourette syndrome has been hypothesised as a result of an observation that red hair is over represented in this condition. 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"......"In this study 22, 13% (95% CI 8.9-19.4) of the Tourette syndrome population had red hair. Data from Australian studies suggests, the normal population with red hair is 2–6%. The proportions of red haired individuals in this study were significantly higher than five of the eight population control groups"....."Many Tourette syndrome patients had multiple red haired relatives, since 90 patients yielded a total of 181 relatives with red hair."
"What is the connection between red hair and Tourette syndrome?" HERE
At this point, I need to do my teacher thing and do a short lesson on melanin:
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. Melanin is the primary determinant of human skin color. Some animals as well as humans have no or limited melanin in their bodies, which is a condition known as albinism. There are 3 types of melanin- eumelanin, pheomelanin and neuromelanin. Both pheomelanin and eumelanin are found in human skin and hair, but eumelanin is the most abundant melanin in humans, as well as the form most likely to be deficient in albinism. Pheomelanin is more plentiful in fair-skinned humans. It gives a yellow to reddish hue and is found more in blonde and red hair. Pheomelanin research also shows that it may become cancerous when exposed to the ultraviolet rays of the sun. "Melanin in humans" HERE
"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).
If you have less neuromelanin in the brain you may have less protection."Do Blonds and Redheads Have More Fun?" HERE
So repeating what Dr. Gao of Harvard has reported: " In people who do not have Parkinson’s disease, the substantia nigra is dark because it contains a high level of melanin, whereas in people with Parkinson’s, the area fades to gray or white."
Here is a study from 1998 regarding an autopsy on an adult with an autism diagnosis:
"Case 3, age 27 years-The brain weighed 1450 g. The substantia nigra looked pale." ---remember -- "In people who do not have Parkinson’s disease, the substantia nigra is dark because it contains a high level of melanin, whereas in people with Parkinson’s, the area fades to gray or white." A clinicopathological study of autism by A Bailey - 1998 HERE
Pale means not dark, so this seems significant.
And yet another melanin connection, pointing the way, back in 1989:
"The biogenic amines, dopamine, serotonin, and noradrenaline, and their respective metabolites......were measured in selected brain regions obtained at postmortem examination from 4 patients, ages 12-30 years, with typical features of Rett syndrome. These results correspond with the most consistent neuropathologic finding in Rett syndrome, reduced melanin content in neurons of the substantia nigra."
"Rett syndrome: biogenic amines and metabolites in postmortem brain" HERE
It is absolutely outrageous that so many years have gone by and millions of dollars have been paid for gene research, showing no clues to causation, yet there have been signs of environmental toxins as a causative factor in autism spectrum disorders for over twenty years yet that type of research has been denied and under-funded.
So Parkinson's, Alzheimer's, Amyotrophic Lateral Sclerosis, Melanoma, Tourette's, and Autism all may share a common thread - insufficient or dysfunctional melanin - but is there more?
"Iris pigmentation (melanin) in idiopathic dystonic syndromes including torticollis" HERE
"Iris pigmentation was evaluated in 153 Caucasian patients with torticollis and other focal, segmental, or generalized dystonias of unknown cause. Since these disorders are rare in non-Caucasians, it was hypothesized that a relationship might exist between decreased melanin metabolism, reflected by iris pigmentation, and a genetic predisposition to these disorders of involuntary movement. Patients were separated into two groups on the basis of iris pigmentation. Compared to control groups, there was a statistically significant reversal in the ratio of patients with light eyes versus dark eyes."
This rings a bell. Remember this past Fall when this story was all over the news? Another clue was that she was the recipient of a flu shot. HERE
Well, it appears that a lack of melanin can also be implicated in some of these cases. The symptom again - movement disorders of an involuntary nature - seems key.
So onward I went, looking to see what other idiopathic or genetically implied neurological and psychiatric diagnoses might also have a melanin connection. Since I had a family member, in-law with red hair, who also had a schizophrenia diagnosis dating back to the 1960's,, I thought that too was possibly related. I wasn't disappointed in my search:
"Skin Melanin Concentrations in Schizophrenia" The British Journal of Psychiatry (1972) HERE
"....many neurocutaneous diseases show coexistent neuropsychiatric and pigmentary disorder........The schizophrenics generally have significantly lower skin melanin concentrations than their matched controls, except at the male exposed areas. The differences are more marked in females."
Then this: "Epidemiological research on the occurrence of schizophrenia is reviewed, suggesting that the findings are helping researchers to pinpoint the causes of the disease.
It is noted that schizophrenia is more common in Ireland and Sweden than in Italy, Spain, Japan,or America, and that people born in the spring are more likely to be schizophrenic than those born in the fall. The research suggests the possible implication of toxins, viruses, or nutritional deficiencies being linked to geography and season."
Torrey, E.F. (Noyes Division, St. Elizabeths Hospital, Washington, DC 20032) "Tracking the causes of madness." Psychology Today, 12 (10):78-89, 1979
That is interesting as inhabitants of Ireland and Sweden both share a similar appearance - fair skin, blue eyes, with red or blonde hair.
This was definitely another big piece in my melanin hypothesis journey, which was starting to turn into a larger and more impressive highway rather than the one-way road I had started upon. It sure seemed that many roads were leading to the melanin connection. Now some may say that this really is more of a Vitamin D issue than just melanin. Maybe it is both as sunlight is needed for both. Some points related to that with my comments in parentheses:
- "Rain and Snow May Increase Autism Risk" - "Counties in California, Oregon, and Washington with more than 27 inches of precipitation a year had a significantly higher prevalence of autism than drier counties HERE (P<0.01), reported Sean Nicholson, Ph.D., of Cornell University here, and colleagues in the November issue of the Archives of Pediatric and Adolescent Medicine. (Less sun equals less melanin and Vitamin D. Also, rain and snow bring more mercury - HERE)
- "Melanin gives color to the skin, hair, and iris of the eyes. Levels of melanin depend on race and amount of sunlight exposure. Sun exposure increases melanin production." (So race, migration, location and weather would effect this)
- "Somalis living in Sweden have dubbed autism, "The Swedish disease," as it has become an increasingly common occurrence among Somali children that have moved to Sweden. One factor could be just sunlight and the effect of sunlight. At our northern latitudes we are only exposed to sufficient sunlight to build up our vitamin D for a few short summer months which explains that around half of the Swedish population suffers from a vitamin D deficiency."HERE
- "They're given more [vaccines] then we get, and sometimes they're doubled up," Harrington said. "Then their children are given immunizations. In Somalia, their generations have not received these immunizations, and then suddenly they're getting just a wallop of them in the moms and then in the babies. That's certainly a concern that's been expressed to me by the Somali population." ( Likely mercury in the form of thimerosal, aluminum, and many live viruses) HERE
(Again lots of sun to then very sparse for the Somalis who moved there and also to Minnesota- below.)
And from a recent study on Vitamin D and autism - "In the first paper, Dr. Mats Humble and his colleagues – at the Karolinska Institute in Stockholm – measured vitamin D levels on 117 adult psychiatric outpatients. They found that the 10 adult patients with autism had the lowest 25(OH)D levels of any of the other groups, including the patients with schizophrenia and depression, an average of about 12 ng/ml, a level known to cause rickets in children and osteomalacia in adults."
"Low serum levels of 25-hydroxyvitamin D (25-OHD) among psychiatric out-patients in Sweden: Relations with season, age, ethnic origin and psychiatric diagnosis." HERE
"It causes gradual loss of central vision by damaging the retinal pigment epithelial (RPE) cells that lie underneath the macula, the small region of the retina responsible for fine detail at the center of the field of vision. Without RPE cells, the photoreceptors, which are the light detectors, also die. Patients lose the ability to see detail and soon they can't read.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. Reactive oxygen species, or free radicals, energized by light, are thought to play a major role in macular degeneration, the leading cause of blindness in people over the age of 60.
"We now have the first persuasive evidence that melanin plays an important protective role within the eye," said Norris, professor in the Department of Chemistry and the Institute for Biophysical Dynamics at the University of Chicago and one of the senior authors of both papers. "Although melanin contains its own intrinsic free radical, we found that it absorbs a far more damaging form of free radical, converting its destructive energy into harmless heat before it can hurt the retina.",,,,. "the team was able to capture convincing and dramatic evidence that melanin protects the retinal cells, they show that increased melanin aggregation and radical migration within melanin aggregates can protect RPE cells from free-radical damage and help prevent cell death, they demonstrate how melanin actually scavenges the harmful free radicals produced by high-energy blue or ultraviolet light as it flows into the eye, soaking them up and neutralizing their effects"......"The disorder is far more prevalent among whites than among black persons."
"RPE meets EPR - Role of melanin in preventing macular degeneration"
So again, we see a disease where melanin plays a key part as it soaks up free radicals. Autism also has free radicals that are harmful. Stay tuned for Part 2, where the bridge from the highway is built to the interstate, as we journey on this autism-melanin hypothesis.