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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Funding: This project was supported by grants from Instituto de Salud Carlos III-FIS (PI07-0045, PI07/90512), Diputación General de Aragón (Grupos Consolidados B33). MDH-M and IM-R are supported by a predoctoral fellowships FIS (FI05/00501 and FI0700184). The CIBER de Enfermedades Raras is an initiative of the ISCIII.
Competing interests: None.
Patient consent: Obtained.
AS present address: Centro de Investigación Príncipe Felipe, Valencia, Spain