Researchers show how mutations of gene transcription and chromatin regulation-related genes cause autism.
Apr 9 2024Juntendo University
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.
To get to the bottom of KMT2C's role in ASD pathogenesis, the team developed and analyzed genetically engineered strain mice having a frameshift mutation that models the KMT2C haploinsufficiency. They then performed various behavioral analyses, in which they observed that the mutant mice exhibited lower sociality, inflexibility, auditory hypersensitivity, and cognitive impairments, which are all ASD-related symptoms.
This was somewhat unexpected. KMT2C mediates H3K4 methylation, which is thought to activate gene expression, and thereby KMT2C haploinsufficiency was expected to cause reduced expression of target genes." Related StoriesTo gain mechanistic insights into their finding, the researchers carried out chromatin immunoprecipitation, a technique to determine the location on the DNA where the protein interacts with it.
Gene Gene Expression Bipolar Disorder Brain Cell Chromatin Disability DNA Drugs Efficacy Genes Genetic Genomics Hypersensitivity Immunoprecipitation Laboratory Lysine Medicine Mouse Model Mutation Newborn Pathology Ph Protein Psychiatry Research RNA RNA Sequencing Schizophrenia Transcription
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