Electrophoresis techniques to investigate defects in oxidative phosphorylation.
Methods
; 46(4): 281-7, 2008 Dec.
Article
em En
| MEDLINE
| ID: mdl-18948205
ABSTRACT
Defects in mitochondrial oxidative phosphorylation (OXPHOS) are a frequent cause of severe inherited metabolic disorders and also contribute to aging. The OXPHOS system constitutes five multi-subunit complexes embedded in the mitochondrial inner membrane. Correct function of this system requires proper assembly of the approximately 80 proteins in the complexes, as well as numerous assembly factors. Blue native electrophoresis has become a crucial tool to investigate OXPHOS-related defects in mitochondrial disease patients. In addition, OXPHOS-assembly profiles can be obtained by two dimensional blue native/SDS gel electrophoresis, which provides additional information for identifying disease-causing mutations and insight in the role of specific proteins in the biogenesis of the OXPHOS system. Here we provide a practical guide on how to set-up the basic technique to study OXPHOS defects in patient-derived cells and tissues.
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Fosforilação Oxidativa
/
Doenças Mitocondriais
/
Eletroforese
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Methods
Assunto da revista:
BIOQUIMICA
Ano de publicação:
2008
Tipo de documento:
Article
País de afiliação:
Holanda