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The autism spectrum may comprise a small set of disorders that converge on a few common molecular pathways, or it may be a large set of disorders with diverse mechanisms. [16] Autism appears to result from developmental factors that affect many or all functional brain systems. [17]
Trimethyllysine dioxygenase, mitochondrial is an enzyme that in humans is encoded by the TMLHE gene in chromosome X. [ 4 ] [ 5 ] [ 6 ] Mutations in the TMLHE gene resulting in carnitine biosynthesis disruption have been associated with autism symptoms.
Unusual responses to sensory stimuli are more common and prominent in individuals with autism, and sensory abnormalities are commonly recognized as diagnostic criteria in autism spectrum disorder (ASD), as reported in the DSM-5; although there is no good evidence that sensory symptoms differentiate autism from other developmental disorders. [84]
Robert K. Naviaux (born in 1956) is an American physician-scientist who specializes in mitochondrial medicine and complex chronic disorders. He discovered the cause of Alpers syndrome, [1] [2] and was part of the team that reported the first mitochondrial DNA (mtDNA) mutation to cause genetic forms of autism. [3]
Some of Rossignol's other research has focused on the prevalence of mitochondrial disease in autistic children, and has concluded that mitochondrial disorders are more common among autistic children than neurotypical children. [13]
Rett syndrome brain samples and autism brain samples show immaturity of dendrite spines and reduction of cell-body size due to errors in coupled regulation between MECP2 and EGR2. [62] However, because of the multigene involvement in autism, the MECP2 gene has only been identified as a vulnerability factor in autism. [63]
About 1 in 4,000 children in the United States will develop mitochondrial disease by the age of 10 years. Up to 4,000 children per year in the US are born with a type of mitochondrial disease. [44] Because mitochondrial disorders contain many variations and subsets, some particular mitochondrial disorders are very rare.
The service has aided geneticists in making several discoveries, including establishing the genetic causes of a form of autism spectrum disorder, syndromes of microcephaly with hearing loss, a mitochondrial disease, SPONASTRIME dysplasia and Au–Kline syndrome.