Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization.
Mitochondrion
; 11(1): 191-9, 2011 Jan.
Article
em En
| MEDLINE
| ID: mdl-20920610
ABSTRACT
Mutations in the TMEM70 gene are responsible for a familial form of complex V deficiency presenting with 3-methylglutaconic aciduria, lactic acidosis, cardiomyopathy and mitochondrial myopathy. Here we present a case of TMEM70 deficiency due to compound heterozygous mutations, who displayed abnormal mitochondria with whorled cristae in muscle. Immunogold electron microscopy and tomography shows for the first time that nucleoid clusters of mtDNA are disrupted in the abnormal mitochondria, with both nucleoids and mitochondrial respiratory chain complexes confined to the outer rings of the whorls. This could explain the differential effects on the expression and assembly of complex V in different tissues.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Partículas Submitocôndricas
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DNA Mitocondrial
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Doenças Mitocondriais
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Proteínas Mitocondriais
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Heterozigoto
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Proteínas de Membrana
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Mitocôndrias
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Mitocôndrias Musculares
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Mutação
Limite:
Adult
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Female
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Humans
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Male
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Newborn
Idioma:
En
Ano de publicação:
2011
Tipo de documento:
Article