Gene Mutation That Causes Autism Identified

   |  Updated: April 07, 2015 18:52 IST

Gene Mutation That Causes Autism Identified

Scientists in Argentina have discovered a gene mutation that causes autism. A three-member team of researchers sequenced and decoded for the first time in Argentina the complete genome of three patients with Autism Spectrum Disorder (ASD) and epilepsy and discovered the genetic mutation that causes the disorders.

The researchers studied the case of three brothers who suffer from autism, representing "an infrequent form of familial ASD." The scientists included team leader and neurologist Marcelo Kauffman, chemist Adrian Turjanski and molecular biologist Martin Vazquez, from Argentina's National Council for Scientific and Technical Research, state-run 'Xinhua' news agency reported.

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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 were published in the journal PLOS ONE.

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Tags:  Autism