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According to a study report published in the journal PLOS ONE, a three-member team of researchers sequenced and decoded for the first time the complete genome of three patients with Autism Spectrum Disorder (ASD) and epilepsy and discovered the genetic mutation that causes the disorders in Argentina.
The researchers, who have discovered the gene mutation which causes autism, studied the special case where three brothers suffer from the autism, representing “an infrequent form of familial ASD.”
Argentina’s National Council for Scientific and Technical Research centre’s Neurologist Marcelo Kauffman has leaded the research, and was assisted by chemist Adrian Turjanski and molecular biologist Martin Vazquez
The study “opens possibilities for research into treatments of Autism Spectrum Disorder, which is characterised by reduced social skills, repetitive behaviour, behavioural disorders, a severe lack of language development and other clinical symptoms,” said Kauffman.
“While there is no known specific treatment for SHANK3 (gene) defects, there are treatments in the research phase that, once approved, could benefit these and other patients in the future,” Kauffman added.
The findings might have concentrated exclusively on the case of autism in three brothers, but it will help the researchers and others fellows to work on finding the gene structure which predominantly causes autism.