Argentine scientists discover gene mutation that causes autism

By Park Sae-jin Posted : April 15, 2015, 15:51 Updated : April 15, 2015, 15:51
Argentine scientists have discovered the gene mutation that causes autism, the country's Ministry of Science, Technology and Productive Innovation announced Monday.

According to the ministry's website, a three-member team of researchers, who sequenced and decoded for the first time in the country the complete genome of three patients with Autism Spectrum Disorder (ASD) and epilepsy, discovered the genetic mutation that causes the disorders.

Their findings were published in the prestigious English-language scientific journal PLOS ONE, under the headlines of "Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder."

The scientists, including team leader and neurologist Marcelo Kauffman, chemist Adrian Turjanski and molecular biologist Martin Vazquez, all work for the National Council for Scientific and Technical Research.

The study "opens possibilities for research into treatments of Autism Spectrum Disorder, which is characterized by reduced social skills, repetitive behavior, behavioral disorders, a severe lack of language development and other clinical symptoms," Kauffman said.

By Ruchi Singh
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