线粒体DNA
突变
遗传学
先证者
生物
基因
呼吸链
核基因
线粒体呼吸链
利氏病
线粒体
作者
Miguel A. Martín,Alberto Blázquez,Luis González Gutiérrez-Solana,Daniel Fernández-Moreira,Paz Briones,Antoni L. Andreu,Rafael Garesse,Yolanda Campos,Joaquı́n Arenas
出处
期刊:Archives of neurology
[American Medical Association]
日期:2005-04-01
卷期号:62 (4): 659-659
被引量:70
标识
DOI:10.1001/archneur.62.4.659
摘要
Mutations in the nuclear-encoded subunits of complex I of the mitochondrial respiratory chain are a recognized cause of Leigh syndrome (LS). Recently, 6 mutations in the NDUFS1 gene were identified in 3 families.To describe a Spanish family with LS, complex I deficiency in muscle, and a novel mutation in the NDUFS1 gene.Using molecular genetic approaches, we identified the underlying molecular defect in a patient with LS with a complex I defect.The proband was a child who displayed the clinical features of LS.Muscle biochemistry results showed a complex I defect of the mitochondrial respiratory chain. Sequencing analysis of the mitochondrial DNA-encoded ND genes, the nuclear DNA-encoded NDUFV1, NDUFS1, NDUFS2, NDUFS4, NDUFS6, NDUFS7, NDUFS8, and NDUFAB1 genes, and the complex I assembly factor CIA30 gene revealed a novel homozygous L231V mutation (c.691C-->G) in the NDUFS1 gene. The parents were heterozygous carriers of the L231V mutation.Identifying nuclear mutations as a cause of respiratory chain disorders will enhance the possibility of prenatal diagnosis and help us understand how molecular defects can lead to complex I deficiency.
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