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探索甲基四酸减少酶 (MTHFR) 基因变异对自闭症谱系障碍严重性的影响
Christian C Iannuzzelli1, Andrea L Iannuzzelli2, Brandon Cunha1
1Rowan-Virtua School of Osteopathic Medicine, Stratford, NJ, USA.
Journal of osteopathic medicine
|September 5, 2025
概括
甲基四酸减少酶 (MTHFR) 活性较低与自闭症谱系障碍 (ASD) 症状严重程度的增加有关. 这表明MTHFR基因变异可能影响ASD的进展,并告知早期查.
科学领域:
- 神经科学
- 遗传学
- 儿童发育医学
背景情况:
- 自闭症谱系障碍 (ASD) 是一种神经发育状况,具有复杂的遗传和环境影响.
- 在患有自闭症的个体中,甲基四酸减少酶 (MTHFR) 基因变异很常见,对神经发育至关重要的叶酸代谢产生影响.
- 了解MTHFR与ASD的联系对于潜在的早期诊断和干预策略至关重要.
研究的目的:
- 在临床队列中研究MTHFR基因变异与ASD症状严重程度之间的关联.
- 确定MTHFR活性降低是否与更严重的自闭症症状相关.
- 提供有关自闭症潜在机制和针对性的干预措施的见解.
主要方法:
- 招募了78名被诊断患有自闭症的患者.
- 使用精神疾病诊断和统计手册第五版 (DSM-5) 标准评估ASD严重程度.
- 进行统计分析以评估MTHFR活性水平与自闭症症状严重程度之间的关系.
主要成果:
- 发现MTHFR活性与自闭症严重程度之间存在显著的负相关性 (p<0. 05).
- 根据DSM-5分类,MTHFR活性较低的患者表现出更严重的自闭症症状.
- 这些发现表明MTHFR基因变异与ASD神经发育结果之间存在潜在联系.
结论:
- 在调节自闭症严重程度方面,MTHFR基因变异起作用.
- MTHFR活性可以作为早期自闭症查和个性化干预的生物标志物.
- 需要进一步研究以阐明机制并制定临床策略,同时承认目前的研究由于样本大小的局限性.
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