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Your search keyword '"Lombès, Anne"' showing total 3 results
Start Over Author "Lombès, Anne" Journal biochimie
3 results on '"Lombès, Anne"'

1. Effect of Lon protease knockdown on mitochondrial function in HeLa cells

Author

Bayot, Aurélien, primary, Gareil, Monique, additional, Chavatte, Laurent, additional, Hamon, Marie-Paule, additional, L'Hermitte-Stead, Caroline, additional, Beaumatin, Florian, additional, Priault, Muriel, additional, Rustin, Pierre, additional, Lombès, Anne, additional, Friguet, Bertrand, additional, and Bulteau, Anne-Laure, additional

Published
2014
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3. Unsolved issues related to human mitochondrial diseases

Author

Mylène Gilleron, Claude Jardel, Christine Bellanné-Chantelot, Anne Lombès, Karine Auré, Lombès, Anne, Institut Cochin (IC UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de Biochimie Métabolique [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), This work was supported by grants from the Association Française contre les Myopathies (AFM), from the Association contre les Maladies Mitochondriales (AMMi), and from the Fondation pour la Recherche Médicale (FRM) to AL., Institut Cochin (UM3 (UMR 8104 / U1016)), Université Paris Descartes - Paris 5 (UPD5) - Institut National de la Santé et de la Recherche Médicale (INSERM) - Centre National de la Recherche Scientifique (CNRS), Assistance publique - Hôpitaux de Paris (AP-HP) - CHU Pitié-Salpêtrière [APHP], Centre de Génétique moléculaire et chromosomique, and Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)

Subjects
human diseases, Mitochondrial DNA, Mitochondrial Diseases, Genotype, Mutant, oxidative phosphorylation, Inheritance Patterns, Mitosis, tissue specificity, Biology, medicine.disease_cause, Biochemistry, Human mitochondrial genetics, Chimerism, DNA, Mitochondrial, Mitochondrial Proteins, Genetic Heterogeneity, medicine, Animals, Humans, heteroplasmy, Genetics, [SDV.MHEP.EM] Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Mutation, General Medicine, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Phenotype, Heteroplasmy, Mitochondria, mitochondrial fusion, Gene Expression Regulation, Organ Specificity
Abstract

19 pages; International audience; : 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.

Published
2013
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