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Genetic Study to Understand Autism Better

Update Date: Feb 03, 2013 07:09 AM EST

Almost one in every 88 children are autistic, with mild to severe autism resulting in seizures and diminished intellectual prowess. A recent research aims at studying the genetic make-up of autism to aid in its effective treatment. Autism is a disorder where the neural development of the brain is impaired. This adversely affects the social interaction and communication skills, also resulting in restricted and repetitive actions. 

The research is done in joint collaboration between scientists at the Johns Hopkins University in Baltimore and Tel Aviv University in Israel.

"Autism is the most inheritable of neurodevelopmental disorders, but identifying the underlying genes is difficult since no single gene contributes more than a tiny fraction of autism cases. Mutations in many different genes variably affect a few common pathways," Rajini Rao of Johns Hopkins University in Baltimore was quoted as saying in Medicalxpress.

The researchers studied the different genetic combinations in the DNA sequence in NHE9 (the ion transporter) and observed that any variations linked to autism in NHE9 diminished the transporter function considerably. The team referred to the previous studies on bacteria and yeast which focused on understanding a complex neurological disorder.

"Altering levels of this transporter at the synapse may modulate critical proteins on the cell surface that bring in nutrients or neurotransmitters such a glutamate. Elevated glutamate levels are known to trigger seizures, possibly explaining why autistic patients with mutations in these ion transporters also have seizures," Rao explained.

"Although the research is still at an early stage, drugs that target the cellular pathways regulated by NHE9 could compensate for its loss of function and lead to potential therapy in the future. These findings add a new candidate for genetic screening of at-risk patients that may lead to better diagnosis or treatment of autism," Rao added.

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