[Pathophysiology of human mitochondrial diseases]. / Physiopathologie des maladies mitochondriales.
Biol Aujourdhui
; 209(2): 125-32, 2015.
Article
en Fr
| MEDLINE
| ID: mdl-26514381
ABSTRACT
Mitochondrial diseases, defined as the diseases due to oxidative phosphorylation defects, are the most frequent inborn errors of metabolism. Their clinical presentation is highly diverse. Their diagnosis is difficult. It relies on metabolic parameters, histological anomalies and enzymatic assays showing defective activity, all of which are both inconstant and relatively unspecific. Most mitochondrial diseases have a genetic origin. Candidate genes are very numerous, located either in the mitochondrial genome or the nuclear DNA. Pathophysiological mechanisms of mitochondrial diseases are still the matter of much debate. Those underlying the tissue-specificity of diseases due to the alterations of a ubiquitously expressed gene are discussed including (i) quantitative aspect of the expression of the causal gene or its partners when appropriate, (ii) quantitative aspects of the bioenergetic function in each tissue, and (iii) tissue distribution of heteroplasmic mitochondrial DNA alterations.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Enfermedades Mitocondriales
Tipo de estudio:
Diagnostic_studies
/
Incidence_studies
/
Prognostic_studies
Límite:
Humans
Idioma:
Fr
Revista:
Biol Aujourdhui
Año:
2015
Tipo del documento:
Article
País de afiliación:
Francia