Mitochondrial complex I deficiency of nuclear origin I. Structural genes.
Mol Genet Metab
; 105(2): 163-72, 2012 Feb.
Article
em En
| MEDLINE
| ID: mdl-22142868
ABSTRACT
Complex I (or NADH-ubiquinone oxidoreductase), is by far the largest respiratory chain complex with 38 subunits nuclearly encoded and 7 subunits encoded by the mitochondrial genome. Its deficiency is the most frequently encountered in mitochondrial disorders. Here, we summarize recent data obtained on architecture of complex I, and review the pathogenic mutations identified to date in nuclear structural complex I genes. The structural NDUFS1, NDUFS2, NDUFV1, and NDUFS4 genes are mutational hot spot genes for isolated complex I deficiency. The majority of the pathogenic mutations are private and the genotype-phenotype correlation is inconsistent in the rare recurrent mutations.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas Nucleares
/
Doenças Mitocondriais
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Complexo I de Transporte de Elétrons
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Mitocôndrias
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NADH Desidrogenase
Limite:
Humans
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article