3 years ago

Mitochondrial DNA haplogroups and age at onset of Machado‐Joseph disease/Spinocerebellar ataxia type 3: a study in patients from multiple populations

A. Ramos, M. Planchat, A R. Vieira Melo, M. Raposo, U. Shamim, V. Suroliya, A.K. Srivastava, M. Faruq, H. Morino, R. Ohsawa, H. Kawakami, L.B. Jardim, ML Saraiva-Pereira, J. Vasconcelos, C. Santos, M. Lima

Abstract

Background

Mitochondrial dysfunction has been implicated in the pathogenesis of several neurodegenerative disorders, namely of Machado‐Joseph disease, an autosomal dominant late‐onset polyglutamine ataxia that results from an unstable expansion of a CAG tract in the ATXN3 gene. The size of the CAG tract only partially explains age at onset, highlighting the existence of disease modifiers. Mitochondrial DNA haplogroups have been associated with clinical presentation in other polyglutamine disorders, constituting potential modifiers of Machado‐Joseph disease phenotype.

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