Japanese scientists uncover the genetic basis of autism through a study on KMT2C haploinsufficiency in mice, revealing the therapeutic promise of vafidemstat in treating ASD-related symptoms.
A groundbreaking study involving researchers from Japanese institutions revealed the genetic and epigenetic mechanisms behind autism spectrum disorder, using a KMT2C haploinsufficiency mouse model. Credit: SciTechDaily.com
Autism spectrum disorder encompasses neurodevelopmental conditions where patients display repetitive behavior and impaired sociality. Genetic factors have been shown to influence the development of ASD. Additionally, recent studies have shown that the genes involved in chromatin modification and gene transcription are involved in the pathogenesis of ASD.
Genes involved in chromatin modification and gene transcription are associated with the progression of neurodevelopmental disorders. Researchers from Japan have developed a new mouse model to study the molecular mechanism behind the ability of KMT2C to cause autism spectrum disorder. They also showed that vafidemstat has a rescuing effect by normalizing disrupted gene expression.
What sets this discovery apart is that it challenges the commonly held belief that ASD disability may not be cured and demonstrates the efficacy of vafidemstat in improving ASD-like phenotypes. The results open doors to future research to strengthen the foundation for the pharmacologic treatment of ASD and other neurodevelopmental disorders. Prof. Kato concludes, “Our research shows that drugs similar to vafidemstat may be generalizable to multiple categories of psychiatric disorders.
Reference: “Transcriptomic dysregulation and autistic-like behaviors in Kmt2c haploinsufficient mice rescued by an LSD1 inhibitor” by Takumi Nakamura, Toru Yoshihara, Chiharu Tanegashima, Mitsutaka Kadota, Yuki Kobayashi, Kurara Honda, Mizuho Ishiwata, Junko Ueda, Tomonori Hara, Moe Nakanishi, Toru Takumi, Shigeyoshi Itohara, Shigehiro Kuraku, Masahide Asano, Takaoki Kasahara, Kazuo Nakajima, Takashi Tsuboi, Atsushi Takata and Tadafumi Kato, 26 March...
Autism Genetic Triggers Therapeutic Hope Study KMT2C Haploinsufficiency Mice Vafidemstat ASD-Related Symptoms
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