Mitochondrial complex I deficiency in GDAP1-related autosomal dominant Charcot-Marie-Tooth disease (CMT2K).
Neurogenetics
; 10(2): 145-50, 2009 Apr.
Article
en En
| MEDLINE
| ID: mdl-19089472
ABSTRACT
Mutations in GDAP1, an outer mitochondrial membrane protein responsible for recessive Charcot-Marie-Tooth disease (CMT4A), have also been associated with CMT2K, a dominant form of the disease. The three CMT2K patients we studied carried a novel dominant GDAP1 mutation, C240Y (c.719G > A). Mitochondrial respiratory chain complex I activity in fibroblasts from CMT2K patients was 40% lower than in controls, whereas the tubular mitochondria were 33% larger in diameter and the mitochondrial mass was 20% greater. Thus, besides the regulatory role GDAP1 plays in mitochondrial network dynamics, it may also be involved in energy production and in the control of mitochondrial volume.
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Enfermedad de Charcot-Marie-Tooth
/
Complejo I de Transporte de Electrón
/
Mitocondrias
/
Proteínas del Tejido Nervioso
Límite:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Idioma:
En
Revista:
Neurogenetics
Asunto de la revista:
GENETICA
/
NEUROLOGIA
Año:
2009
Tipo del documento:
Article
País de afiliación:
Francia