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J Med Genet 2009;46:64-67 doi:10.1136/jmg.2008.060616
  • Mutation report

NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein

  1. E López-Gallardo1,2,3,
  2. A Solano1,
  3. M D Herrero-Martín1,2,3,
  4. Í Martínez-Romero1,2,3,
  5. M D Castaño-Pérez4,
  6. A L Andreu2,5,
  7. A Herrera6,
  8. M J López-Pérez1,2,3,
  9. E Ruiz-Pesini1,2,3,7,
  10. J Montoya1,2,3
  1. 1
    Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50013-Zaragoza, Spain
  2. 2
    CIBER de Enfermedades Raras (CIBERER), ISCIII, Spain
  3. 3
    Instituto Aragonés de Ciencias de la Salud, Spain
  4. 4
    Servicio de Neurología. Hospital Virgen de los Lirios, Alcoy, Alicante, Spain
  5. 5
    Hospital Vall d’Hebron, Barcelona, Spain
  6. 6
    Servicio de Cirugía Ortopédica y Traumatología, Hospital Miguel Servet, Zaragoza, Spain
  7. 7
    Fundación Aragón I+D (ARAID), Spain
  1. Professor J Montoya. Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Miguel Servet 177, 50013-Zaragoza, Spain; jmontoya{at}unizar.es
  • Received 22 May 2008
  • Revised 3 July 2008
  • Accepted 14 July 2008

Abstract

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.

Footnotes

  • 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

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