Mitochondrial DNA variants in inclusion body myositis

C.C. Kok, A.A. Boyt, A.A. Boyt, Silvana Gaudieri, S. Gaudieri, R.N. Martins, A.V. Askanas, M. Dalakas, L. Kiers, Francis Mastaglia, Michael Garlepp

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)


Mitochondrial DNA variants have been shown to be associated with many diseases, Mutations at mitochondrial DNA nucleotide positions 3192, 3196, 3397 and 4336 have been described in association with late-onset Alzheimer's disease. The pathological similarities between inclusion body myositis and Alzheimer's disease prompted an analysis of the relationship between the reported mutations and sporadic inclusion body myositis. The 4336G variant was not significantly increased in patients with inclusion body myositis or Alzheimer's disease when compared to controls. None of the patients with inclusion body myositis carried mutations at nucleotide positions 3192, 3196 and 3397. A transition at nucleotide position 4580 was detected in some patients with inclusion body myositis and Alzheimer's disease but was not significantly higher in frequency when compared to controls. Phylogenetic analysis showed that the 4336G and 4580A variants clustered together in their respective group. A group of patients with inclusion body myositis also clustered together an a separate branch of the phylogenetic tree. Closer investigation of this group revealed a common polymorphism at nucleotide position 16311. The frequency of the 16311C variant was higher in inclusion body myositis than in Alzheimer's disease and controls, although when only caucasian patients were considered the increased frequency was not statistically significant. Further studies will be required to determine whether this variant plays a role in the pathogenesis of inclusion body myositis. (C) 2000 Elsevier Science B.V. All rights reserved.
Original languageEnglish
Pages (from-to)604-611
JournalNeuromuscular Disorders
Issue number8
Publication statusPublished - 2000


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