Mitochondrial genome mutations and kidney disease.
Am J Kidney Dis
; 28(1): 140-6, 1996 Jul.
Article
em En
| MEDLINE
| ID: mdl-8712211
ABSTRACT
Mutations in the mitochondrial genome have been shown to be responsible for several neuromuscular diseases in humans. In this article, we discuss the molecular genetics of mitochondria, their centrality in cellular energy production, and reasons why their genome is extremely vulnerable to mutation. Mitochondrial DNA (mtDNA) mutations and their classic encephalomyopathic clinical phenotypes are briefly reviewed, and evidence presented that mtDNA mutations also present primarily as kidney diseases. Research trends in the field are discussed. Suggestions are made regarding future work, the clinical implications thereof, and potential therapeutic utility accruing from these advances.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
DNA Mitocondrial
/
Nefropatias
/
Mutação
Limite:
Humans
Idioma:
En
Revista:
Am J Kidney Dis
Ano de publicação:
1996
Tipo de documento:
Article
País de afiliação:
Estados Unidos