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Nature Neuroscience:李明/肖潇/朱峰/方贻儒合作揭示双相情感障碍遗传特征和细胞机制
生物世界· 2025-11-26 04:05
Core Insights - The article discusses a significant study on bipolar disorder, highlighting its genetic underpinnings and the importance of cross-ethnic research in understanding this complex mental health condition [2][7]. Group 1: Research Findings - The study published in Nature Neuroscience integrates the largest genetic resource for bipolar disorder in East Asian populations, including 5,164 patients and 13,460 controls from Han Chinese [3]. - A high correlation (0.86) in genetic effects of bipolar disorder was found between East Asian and European populations, indicating a conserved core genetic mechanism across different ethnicities [6]. - The research identified 93 significant genetic risk loci, with 23 being novel discoveries, enhancing the understanding of the genetic architecture of bipolar disorder [6]. Group 2: Developmental and Cellular Insights - The genetic risk for bipolar disorder shows developmental timing and cell-type specificity, with fetal risks primarily associated with GABAergic interneurons in the cerebral cortex, while postnatal risks are more concentrated in excitatory neurons [6]. - Key subcortical brain regions, such as the amygdala and hippocampus, also showed significant enrichment of genetic signals, suggesting the critical role of various interneurons at different developmental stages in the disease [6]. Group 3: Implications for Drug Development - A multidimensional gene prioritization framework identified 39 high-confidence risk genes, with 15 showing abnormal expression in patient brain tissues [6]. - Drug target analysis revealed that proteins encoded by 22 of these genes are targets for existing psychiatric medications and have potential for new drug development, providing crucial insights for drug repositioning and novel therapies [6][7].
阿尔茨海默病会遗传吗
Ke Ji Ri Bao· 2025-09-25 08:24
Core Insights - The prevalence of Alzheimer's disease among individuals aged 60 and above in China exceeds 5%, and it reaches as high as 30% in those aged 85 and above [1] - Genetic factors play a significant role in Alzheimer's disease, with 5%-10% of cases being hereditary [1] - The presence of pathogenic genes such as APP, PS1, and PS2 indicates a high likelihood (over 95%) of developing Alzheimer's, often at an early age [1] - Risk genes like APOEε4 increase the probability of developing the disease but have a lower chance of being inherited [1] Genetic Testing and Early Detection - It is recommended for children of parents with Alzheimer's to undergo genetic testing to determine the presence of pathogenic or risk genes [2] - Early diagnosis through methods like PET scans and cerebrospinal fluid tests can help in timely intervention with antibody drugs to slow disease progression [2] Prevention Strategies - Prevention of Alzheimer's should begin early in life, emphasizing the importance of good learning habits and cognitive engagement from youth [2] - Building cognitive reserves throughout life is crucial for effectively preventing neurodegenerative diseases [2]