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Japan researchers identify link between autism and gene mutation

Nerve cells made from an iPS cell of an autism patient with a mutation in the POGZ gene (right, green). The number is fewer than those of a non-autistic person (left). (Photos courtesy of Osaka University Graduate School Associate Professor Takanobu Nakagawa)

OSAKA -- A gene related to autism has been identified by a research group comprising members from Osaka University and other institutions, according to an announcement.

The researchers confirmed that when the gene, which is necessary for the normal development of the brain, mutates, it interferes with the growth of nerve cells. This finding is anticipated to lead to the development of therapeutic drugs.

A paper on the research was published on the British web journal Nature Communications on Feb. 26.

Autism is characterized by a variety of symptoms, such as difficulty communicating with other people and strong obsessions. According to the research team, it is thought to originate with a development abnormality in the brain from the fetal stage, with one in approximately 40 people developing the condition. But the cause is mostly unknown.

It is known that some people with autism have a mutation in a gene called POGZ. When the research team observed the brains of mice whose POGZ genes had weakened due to mutations, they had fewer nerve cells than ordinary mice. In experiments in which nerve cells are created using induced pluripotent stem (iPS) cells originating with patients, the proportion of nerve cells was smaller.

Furthermore, mutated mice showed activity similar to those of autism patients, such as expressing interest in other mice they live with for shorter lengths of time, as well as increased repetitive behavior and calling out for parent mice. They had a thinner cerebral cortex than ordinary mice and were likely to have a small head, which match the tendency of autism to occur in conjunction with microcephaly.

Those with mutations in the POGZ gene only comprise a portion of autism patients, but shedding light on the workings of the POGZ gene could possibly explain the cause of autism in other types of autism patients. "With mutation of the POGZ gene, the neural circuit becomes abnormally active," said Takanobu Nakazawa, an associate professor of neuroscience at the Osaka University Graduate School of Dentistry and a member of the research group. "If this activity can be tamped down, there's a possibility that some autism symptoms can be suppressed."

(Japanese original by Koki Matsumoto, Osaka Science & Environment News Department)

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