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Epigenetic alterations of the methylation states of genes such as MECP2 and EGR2 have been shown to play a role in autism and autism spectrum disorders. MECP2 abnormalities have been shown to lead to a wide range of phenotypic variability and molecular complexities. [60]
This is a form of DNA methylation. Many genes have CpG islands, which frequently occur near the beginning of the gene. MECP2 does not bind to these islands in most cases, as they are not methylated. The expression of a few genes may be regulated through methylation of their CpG island, and MECP2 may play a role in a subset of these. Researchers ...
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]
DNA methylation and histone modification are the two leading causes for epigenetic causes for autism. Targets for research for DNA methylation in relation to autism are oxytocin receptor, SHANK3, and BCL-2. [37] Oxytocin is a hormone that partially controls social interactions, this has been epigenetically linked to autism.
Individuals with these mutations experience phenotypes such as developmental delay and growth abnormalities as well as features found in other neurodevelopmental disorders such as Sotos Syndrome and Autism Spectrum Disorder. [9] Little is known about the exact mutations on Tet3 that cause Beck–Fahrner syndrome and their inheritance patterns.
Studies have shown that autism spectrum disorders (ASDs) may present due to basic disorders of epigenetic regulation. [6] Other neuroimmunological research has shown that deregulation of correlated epigenetic processes in ASDs can alter gene expression and brain function without causing classical genetic lesions which are more easily ...
Autism spectrum disorder [a] (ASD), or simply autism, is a neurodevelopmental disorder "characterized by persistent deficits in social communication and social interaction across multiple contexts" and "restricted, repetitive patterns of behavior, interests, or activities". [11] Sensory abnormalities are also included in the diagnostic manuals ...
[11] [21] There is also a report of a mutation in a patient with autism spectrum disorder. [22] A study showed that Kdm5c-knockout mice exhibit adaptive and cognitive abnormalities similar to those in human X-linked intellectual disability and concluded that histone methylation dynamics sculpt the neuronal network. [23]
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