当罕见与常见相遇时:可治疗的遗传疾病在一般精神病患者群体中得到了丰富
Venuja Sriretnakumar1,2, Ricardo Harripaul1,3, James L Kennedy1,4
1Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada.
在精神病患者中,可治疗的遗传疾病 (TGD) 的发生率是精神病患者的两倍. 识别这些遗传疾病为患有精神疾病的人提供了新的向治疗选择.
科学领域:
- 神经科学是一个神经科学.
- 遗传学 是一个遗传学.
- 精神病学是一个精神病学.
背景情况:
- 精神疾病是全球健康的重大负担.
- 目前的治疗方法对相当一部分精神病患者是无效的.
- 在精神病患者群体中可治疗遗传疾病 (TGD) 的作用尚未得到充分研究.
研究的目的:
- 调查精神病患者中具有神经精神病特征的TGD的患病率.
- 为了测试TGD在精神病患者群体中比在普通人群中更常见的假设.
主要方法:
- 针对129个与108个TGDs相关联的基因的下一代测序.
- 对包括2301名精神病患者在内的队列的分析.
- 对TGDs的致病变体和载体身份的识别.
主要成果:
- 确定了48名被假定受影响的个体和180名TGD携带者.
- 在79个基因中发现了致病变体.
- 观察到TGD的患病率为2.09%,与一般人口估计的1%患病率相比,增长了两倍.
结论:
- 精神病患者群体中TGD的患病率可能被低估了.
- 提高对TGD的认识和诊断,可以带来新的向治疗方法.
- 遗传因素在神经精神疾病中起着至关重要的,但经常被忽视的作用.
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