MUTATION REPORTS
NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein
1 Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50013-Zaragoza, Spain
2 CIBER de Enfermedades Raras (CIBERER), ISCIII, Spain
3 Instituto Aragonés de Ciencias de la Salud, Spain
4 Servicio de Neurología. Hospital Virgen de los Lirios, Alcoy, Alicante, Spain
5 Hospital Vall d’Hebron, Barcelona, Spain
6 Servicio de Cirugía Ortopédica y Traumatología, Hospital Miguel Servet, Zaragoza, Spain
7 Fundación Aragón I+D (ARAID), Spain
Correspondence to:
Professor J Montoya. Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Miguel Servet 177, 50013-Zaragoza, Spain; jmontoya{at}unizar.es
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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