Journal of Medical Genetics · 2009 · 53 citations · 18 references
Life SciencesGeneticsMolecular GeneticsMitochondrial BiologyMitochondrial GeneticsNeuromuscular DisordersGenetic DisordersMitochondrial DiseaseMitochondrial DisordersMitochondrial DysfunctionMitochondrial Neurological DisordersNeurogenetic DisordersAtp Synthase DeficiencyMitochondrial Disease-associated VariantsMitochondrial Dna GeneticsMitochondrial Enzyme DeficienciesMitochondrial Inheritance DisordersMitochondrial MyopathiesMitochondrial SyndromesMuscle Biopsy Findings In Mitochondrial Disease
BACKGROUND: Neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome have been associated to m.8993T>G/C mutations in the subunit 6 of the ATP synthase (p.MT-ATP6). METHODS: We have performed a mutational screening of the mitochondrial DNA gene encoding for this protein in 62 patients with the disease, that do not carry any of the common mutations described to date. RESULTS: We report clinical and molecular data in one patient who harbours a de novo insertion in the MT-ATP6 gene that results in a truncated subunit. The mutation was heteroplasmic (85%) in muscle DNA and the BN-PAGE analysis showed a clear decrease in the amount of ATP synthase. CONCLUSION: Molecular analysis of NARP patients cannot be limited to the search of the m.8993T>G/C and either the ATP6 or the whole mtDNA should be sequenced.
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A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.
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