Argentine scientists discover gene mutation that causes autism

Updated: 2015-04-07 11:14


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BUENOS AIRES - 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 heading "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," 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.

"A very important aspect to highlight is that now Argentina has the technology needed for this type of study to be carried out on other patients," Turjanski said.

The researchers studied the case of three brothers who suffer from autism, representing "an infrequent form of familial ASD." There was also no known cause for their condition.

The study pointed out that "they were the sole offspring of healthy and unrelated parents after full-term and uneventful pregnancies. The mother performed appropriate health checks during gestations and she didn't show any pathological findings."