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Nature:罕见基因突变大幅增加多动症风险
生物世界· 2025-11-13 04:21
Core Viewpoint - The recent study published in Nature identifies rare genetic variants that significantly increase the risk of Attention Deficit Hyperactivity Disorder (ADHD), implicating specific neuronal biology and providing a basis for precision treatment strategies [2][5]. Group 1: Research Findings - The research team analyzed exome sequencing data from 8,895 ADHD patients and 53,780 control individuals, identifying three genes closely associated with ADHD: MAP1A, ANO8, and ANK2 [4]. - The protein interaction network of these genes is enriched with rare mutation risk genes related to other neurodevelopmental disorders, as well as genes involved in cytoskeletal organization, synaptic function, and RNA processing [4]. - In individuals with ADHD, harmful mutations are correlated with lower socioeconomic status and educational levels, with each rare harmful mutation associated with a decrease of 2.25 IQ points in a sample of 962 adults with ADHD [4]. Group 2: Implications for ADHD - The findings suggest that the comorbidity of mental disorders in ADHD is primarily driven by the accumulation of rare mutations in specific genes, rather than a broad load of constraint genes across the genome [5]. - This research provides important evidence for developing targeted treatment strategies for ADHD, emphasizing the role of rare genetic variants in the disorder [5].