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Researchers pinpoint gene behind autism, other neurodevelopmental disorders

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A study led by researchers at McMaster University has pinpointed a gene that is responsible for neurodevelopmental disorders, including autism.

They found alterations of the gene called “thousand and one amino-acid kinase 2,” known as TAOK2, plays a direct role in these disorders. This is the first comprehensive study that supports previous research suggesting the involvement of this gene.

The study was published in Molecular Psychiatry.

"Our studies reveal that in complex brain disorders that have a loss of many genes, a single deleted gene is sufficient to cause symptoms for the patients," said Karun Singh, Ph.D., study co-author and researcher with McMaster's Stem Cell and Cancer Research Institute. "This is exciting because it focuses our research effort on the individual gene, saving us time and money as it will speed up the development of targeted therapeutics to this gene alone."

Many neurodevelopmental disorders are caused by large missing pieces of genetic material in a person's genome that contain several genes, termed a “microdeletion.” Accurately diagnosing a gene microdeletion helps doctors to predict patient outcome and to determine if a new treatment is available.

The researchers used genetically engineered models and computer algorithms to study a human genome, which allowed them to pinpoint the single gene in question.

"Our next step is to screen candidate drugs that correct the cognitive brain deficits caused by genetic mutations in TAOK2, and identify candidates for pilot clinical trials," said Dr. Singh.

Learn more:

http://www.sciencenewsline.com/news/2018030616110045.html

DOI: 10.1038/s41380-018-0025-5