" The researchers found 21 newly occurring mutations, 11 of which altered proteins. Proteins altered by genetic mutations may hold clues to the biological pathways involved in the development of the disease. The abnormal proteins or the pathways they affect could draw interest as targets in the design of preventive or treatment drugs. In four of the 20 families studied, O’Roak and colleagues identified disruptive new mutations that are potentially causative for autism. In examining the clinical data on the child in each of the four families, they learned that these children were among the most severely affected of the study group, both in intellectual disability and in their autistic features. The findings suggest that these new sporadic disruptive genetic mutations could play a significant factor in the underlying mechanisms and severity of autism in perhaps 20 percent of the cases in which no larger family history of autism exists"
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