Associations of hypomelanotic skin disorders with autism: Do they reflect the effects of genetic mutations and epigenetic factors on vitamin-D metabolism in individuals at risk for autism?

摘要: Vitamin D is crucial for full functioning in many genes, and vitamin-D deficiency interferes with processes, including brain development DNA repair. Several lines of evidence suggest that prenatal early postnatal increases risk autism, probably through multiple effects include impaired increased de novo mutations. High rates autism several genetically based hypomelanotic skin disorders present a puzzle, because ultraviolet-B (UVB) radiation acting on the major natural source vitamin D, lighter skin, which UVB penetration, helps protect against deficiency, especially at higher latitudes. Understanding autism's association hypomelanosis may elucidate etiology. We consider two hypotheses help explain disorders. Hypothesis 1) Because genetic epigenetic variants produce conditions latitudes, these tend to decrease mortality - increase fertility individuals who also carry or factors vulnerability autism. 2) Children will be more likely develop children's photosensitivity parental concerns about sunburn cancer lead them excessively reduce sun exposure resultant levels. One approach testing would involve comparing genomes, markers, pigmentation, serum levels active form autistic individuals, without co-morbid hypomelanoses, as well their relatives controls. availability varies widely around world, epidemiological studies co-morbidity different regions provide complementary means hypotheses. If test results support either hypothesis, they add important an etiologic role supporting investigation whether enhancement aid treatment prevention