Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan.
Department of Neurology, National Taiwan University Hospital, Taipei, Taiwan; Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei, Taiwan.
Stem Cell Res. 2024 Apr;76:103379. doi: 10.1016/j.scr.2024.103379. Epub 2024 Mar 5.
Leigh syndrome is a rare autosomal recessive disorder showcasing a diverse range of neurological symptoms. Classical Leigh syndrome is associated with mitochondrial complex I deficiency, primarily resulting from biallelic mutations in the NDUFAF5 gene, encoding the NADH:ubiquinone oxidoreductase complex assembly factor 5. Using the Sendai virus delivery system, we generated an induced pluripotent stem cell line from peripheral blood mononuclear cells of a 47-years-old female patient who carried a homozygous NDUFAF5 c.836 T > G (p.Met279Arg) mutation. This cellular model serves as a tool for investigating the underlying pathogenic mechanisms and for the development of potential treatments for Leigh syndrome.
Leigh 综合征是一种罕见的常染色体隐性遗传疾病，表现出多种神经症状。经典 Leigh 综合征与线粒体复合物 I 缺陷有关，主要由编码 NADH：泛醌氧化还原酶复合物组装因子 5 的 NDUFAF5 基因的双等位基因突变引起。我们使用仙台病毒传递系统，从一位 47 岁女性患者的外周血单核细胞中生成了诱导多能干细胞系，该患者携带 NDUFAF5 c.836T>G（p.Met279Arg）突变的纯合子。这种细胞模型可用于研究潜在的发病机制和 Leigh 综合征的潜在治疗方法。
