Unsolved issues related to human mitochondrial diseases. - Inserm - Institut national de la santé et de la recherche médicale Access content directly
Journal Articles Biochimie Year : 2014

Unsolved issues related to human mitochondrial diseases.


: Human mitochondrial diseases, defined as the diseases due to a mitochondrial oxidative phosphorylation defect, represent a large group of very diverse diseases with respect to phenotype and genetic causes. They present with many unsolved issues, the comprehensive analysis of which is beyond the scope of this review. We here essentially focus on the mechanisms underlying the diversity of targeted tissues, which is an important component of the large panel of these diseases phenotypic expression. The reproducibility of genotype/phenotype expression, the presence of modifying factors, and the potential causes for the restricted pattern of tissular expression are reviewed. Special emphasis is made on heteroplasmy, a specific feature of mitochondrial diseases, defined as the coexistence within the cell of mutant and wild type mitochondrial DNA molecules. Its existence permits unequal segregation during mitoses of the mitochondrial DNA populations and consequently heterogeneous tissue distribution of the mutation load. The observed tissue distributions of recurrent human mitochondrial DNA deleterious mutations are diverse but reproducible for a given mutation demonstrating that the segregation is not a random process. Its extent and mechanisms remain essentially unknown despite recent advances obtained in animal models.
Fichier principal
Vignette du fichier
manuscript.pdf (245.78 Ko) Télécharger le fichier
Origin : Files produced by the author(s)

Dates and versions

inserm-00877429 , version 1 (28-10-2013)



Anne Lombès, Karine Auré, Christine Bellanné-Chantelot, Mylène Gilleron, Claude Jardel. Unsolved issues related to human mitochondrial diseases.. Biochimie, 2014, 100, pp.171-6. ⟨10.1016/j.biochi.2013.08.012⟩. ⟨inserm-00877429⟩
222 View
438 Download



Gmail Facebook Twitter LinkedIn More