Hereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation

TitreHereditary spastic paraplegia-like disorder due to a mitochondrial ATP6 gene point mutation
Type de publicationArticle de revue
AuteurVerny, Christophe, Gueguen, Naïg, Desquiret-Dumas, Valérie, Chevrollier, Arnaud , Prundean, Adriana, Dubas, Frédéric, Cassereau, Julien , Ferré, Marc , Amati-Bonneau, Patrizia , Bonneau, Dominique , Reynier, Pascal , Procaccio, Vincent
TypeArticle scientifique dans une revue à comité de lecture
Pagination70 - 75
Titre de la revueMitochondrion
Mots-clésAdult, DNA, Mitochondrial/analysis/genetics, Female, Genes, Mitochondrial, Humans, Male, Middle Aged, Mitochondria/enzymology/genetics, Mitochondrial Proton-Translocating ATPases/genetics/metabolism, Phenotype, Point Mutation, Spastic Paraplegia, Hereditary/genetics
Résumé en anglais

Hereditary spastic paraplegia refers to a genetically heterogeneous syndrome. We identified five members of a family suffering from a late-onset spastic paraplegia-like disorder, carrying the homoplasmic m.9176 T>C mutation in the mitochondrial ATP6 gene. The clinical severity of the disease observed in the family was correlated with the biochemical and assembly defects of the ATP synthase. The m.9176 T>C mutation has been previously associated to Leigh syndrome or familial bilateral striatal necrosis. Other factors such as modifying genes may be involved in the phenotypic expression of the disease. The family belongs to the mitochondrial haplogroup J, previously shown to play a role in modulating the phenotype of mitochondrial diseases and be associated with longevity. Moreover other nuclear modifying genes or environmental factors may contribute to the disease phenotype. This finding extends the genetic heterogeneity of the hereditary spastic paraplegia together with the clinical spectrum of mutations of the ATP6 gene.

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