基础科学和病原发生学
Vorapun Senanarong1,2, Chatchawan Rattanabannakit2, Natthamon Wongkom3
1Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkoknoi, Bangkok, Thailand.
Alzheimer's & dementia : the journal of the Alzheimer's Association
|December 23, 2025
概括
这项研究使用下一代测序确定了泰国早期痴呆症 (EOD) 和家族性痴呆症患者的遗传变异. 这些发现有助于诊断EOD并了解其遗传原因.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 分子生物学分子生物学
背景情况:
- 早期痴呆症 (EOD) 影响65岁之前的个体,由于遗传和临床异质性,具有诊断挑战.
- 对于泰国人口,对EOD存在有限的遗传研究.
- 调查EOD的遗传基础对于准确的诊断和治疗至关重要.
研究的目的:
- 确定泰国患者早期痴呆症 (EOD) 的遗传谱.
- 分析患有痴呆症家族史的个体的遗传特征.
- 鉴定泰国人口中导致EOD的致病变体.
主要方法:
- 招募了150名EOD患者和18名家族性痴呆症患者.
- 对38个与痴呆相关的基因进行了针对性的下一代测序 (NGS).
- 分析了遗传变异,包括致病变异和意义不明的变异 (VUS).
主要成果:
- 在15名受试者 (10%的队列) 中确定了致病变体.
- 最常见的是PSEN1变种 (33.33%),包括一种新型变种 (c.817G>A,p.Glu273Lys).
- 61名受试者有不确定意义的变异 (VUS),突出显示了遗传复杂性.
结论:
- 这项研究阐明了泰国患者中EOD和家族性痴呆症的遗传情景.
- 下一代测序是有效的识别痴呆的遗传原因,包括阿尔茨海默病.
- 对已知因果基因的基因测试有助于准确的EOD诊断.
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