从新型YARS2变异中产生的先天性发病的MLASA2:文献综述
Astrid Eisenkölbl1,2,3, Hanns Lochmüller2,4,5,6, Melissa T Carter2,7
1Department of Paediatrics and Adolescent Medicine, Johannes Kepler University Linz, Kepler University Hospital, Linz, Austria.
Journal of neuromuscular diseases
|August 14, 2025
概括
肌肉病,乳酸和 sideroblastic 贫血 (MLASA) 是一种罕见的线粒体疾病. 全基因组测序在患有先天发病的MLASA的患者中发现了复合异质合体YARS2变体,该患者的临床过程稳定.
科学领域:
- 遗传学 遗传学 是一个
- 线粒体生物学 线粒体生物学
- 罕见疾病 罕见疾病
背景情况:
- 肌肉病,乳酸和 sideroblastic 贫血 (MLASA) 是一种罕见的自体逆性线粒体疾病,临床严重程度可变.
- 原始发病的MLASA不常见,通常与严重的后果有关.
研究的目的:
- 报告一例由YARS2基因中复合异合体变体引起的先天发病的MLASA病例.
- 为了将报告患者的临床表型和疾病过程与之前描述的YARS2相关的MLASA病例进行比较.
主要方法:
- 全基因组测序以确定遗传变异.
- 肌肉活检和线粒体酶活性测试用于诊断确认.
- 对YARS2相关的MLASA病例的文献综述,以分析临床特征和结果.
主要成果:
- 鉴定了YARS2的组合异体变体 (c.948G>T,p.(Arg316Ser) 和c.917T>C,p.(Phe306Ser),其中有一个新变体.
- 肌肉活检显示非特异性变化表明线粒体功能障碍.
- 线粒体酶活性测试显示,复合物I,III和IV的活性降低.
结论:
- YARS2变种是MLASA的原因,遗传检测与生物化学分析相结合对于诊断至关重要.
- 患有先天性发病的MLASA和复合异性YARS2变体的患者表现出稳定的临床过程,与之前报告的严重结果形成鲜明对比.
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