NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein
- Resource Type
- Academic Journal
- Authors
- López-Gallardo, E; Solano, A; Herrero-Martín, M D; Martínez-Romero, Í; Castaño-Pérez, M D; Andreu, A L; Herrera, A; López-Pérez, M J; Ruiz-Pesini, E; Montoya, J
- Source
- Journal of Medical Genetics. Jan 01, 2009 46(1):64-67
- Subject
- Language
- English
- ISSN
- 0022-2593
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.