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Study May ID One Potentially Treatable Cause of Autism

Findings implicate faulty transport of fatty acids in brain; suggest opportunity for developing treatment for one subtype of autism
July 16, 2014

Neuroscientists at Japan’s RIKEN Brain Science Institute report evidence that problems in the brain’s fatty acid transport system cause or contribute to autism in some individuals. 

"We hope our finding will lead to the development of tailor-made therapies providing patients with molecules that complement deficiencies caused by their particular mutation," says research team leader Takeo Yoshikawa.

An advance copy of the study appears online in the journal Human Molecular Genetics.

The researchers began their study by identifying mutations in the genes that determine the structure of fatty acid binding proteins (FABPs) in some individuals with autism or schizophrenia. FABPs transport fatty acids – essential building blocks for brain tissue – between and within all cells. Fatty acids play a particularly important role in brain development and function. Previous research has shown abnormally low levels of certain fatty acids in the brains of some individuals with autism or schizophrenia.

Next the researchers blocked different types of FABP genes in mice. When they blocked the types of FABP genes associated with autism in people, the resulting mice developed social avoidance behaviors. When they blocked FABP genes associated with schizophrenia in people, the resulting mice showed anxiety and hyperactivity.

"Identification of FABP mutations in humans may to help us take a personalized treatment approach," Dr. Yoshikawa concluded.

“There are a lot of questions remaining about the link between FABPs and autism spectrum disorder,” comments Dan Smith, Autism Speaks senior director for discovery science. (Dr. Smith was not involved in the study.) “We need to be cautious about the potential for these results to lead to new treatments,” he says. “However, studies like this are very important for revealing genetic alterations associated with autism and the effects that these altered genes have on the brain. With that knowledge, we can identify new classes of medicines and match the right ones to the right people.”


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