Pharmacological targeting of mitochondrial complex I deficiency: the cellular level and beyond.
Mitochondrion
; 12(1): 57-65, 2012 Jan.
Article
em En
| MEDLINE
| ID: mdl-21757032
Complex I (CI) represents a major entry point of electrons in the mitochondrial electron transport chain (ETC). It consists of 45 different subunits, encoded by the mitochondrial (mtDNA) and nuclear DNA (nDNA). In humans, mutations in nDNA-encoded subunits cause severe neurodegenerative disorders like Leigh Syndrome with onset in early childhood. The pathophysiological mechanism of these disorders is still poorly understood. Here we summarize the current knowledge concerning the consequences of nDNA-encoded CI mutations in patient-derived cells, present mouse models for human CI deficiency, and discuss potential treatment strategies for CI deficiency.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Doenças Mitocondriais
Idioma:
En
Ano de publicação:
2012
Tipo de documento:
Article
País de afiliação:
Holanda