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New study uncovers how altered gene expressio

<p><strong>The loss-of-function mutation of <em>KMT2C</em>, a gene involved in histone modification, leads to the development of autism and other neurodevelopmental deficits. However, the precise mechanism of the disease progression is still unknown. Now, researchers from Japan have developed an animal model and elucidated the mechanism by which mutation in genes involved in chromatin modification causes autism. They have also discovered a drug that can be used in the treatment of autism.</strong></p>
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Japan General , Shigehiro Kuraku , Tadafumi Kato , Kurara Honda , Takumi Nakamura , Atsushi Takata , Junko Ueda , Takashi Tsuboi , Mizuho Ishiwata , Toru Takumi , Tomonori Hara , Shigeyoshi Itohara , Toru Yoshihara , Takaoki Kasahara , Chiharu Tanegashima , Yuki Kobayashi , Masahide Asano , Sumitomo Dainippon Pharma , Moe Nakanishi , Mitsutaka Kadota , Kazuo Nakajima , Teikyo University School Of Medicine , Research Institute For Diseases Of Old Age , Carl Von Ossietzky University Of Oldenburg , Department Of Genetics , Laboratory For Behavioral Genetics ,

Patchwork of mutations contributing to bipola

Bipolar disorder (BD) is a serious psychiatric disorder affecting around 1% of the population worldwide. While medications are indispensable for these patients, they are not completely effective, and the underlying genetic architecture and pathogenesis of BD remain unresolved. Researchers from Japan have now used deep exome sequencing to show that mosaic variants/mutations found in genes related to developmental disorders and autism spectrum disease and in the mitochondrial tRNA region could be associated with BD. ....

Japan General , Jun Takayama , Tadafumi Kato , Gen Tamiya , Mizuho Ishiwata , Atsushi Takata , Takashi Hayama , Naomi Sakai , Junko Ueda , Masaki Nishioka , Toshiyuki Someya , Shinichi Kuriyama , Kumiko Fujii , Department Of Molecular Epidemiology , Tohoku University School Of Medicine , Laboratory For Molecular Pathology Of Psychiatric Disorders , Department Of Integrative Genomics , Department Of Psychiatry , Juntendo University , Laboratory For Molecular Dynamics Of Mental Disorders , Shiga University Of Medical Science , Method Of Research , Juntendo University Graduate School Of Medicine , Department Of Preventive Medicine , Statistical Genetics Team , Tohoku Medical Megabank Organization ,