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

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.

• Authors: E López-Gallardo, A Solano, M D Herrero-Martín, I Martínez-Romero, M D Castaño-Pérez, A L Andreu, A Herrera, M J López-Pérez, E Ruiz-Pesini, J Montoya
• Journal: Journal of medical genetics (J Med Genet) Vol. 46 Issue 1 Pg. 64-7 (Jan 2009) ISSN: 1468-6244 [Electronic] England
• PMID: 19124644 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Mitochondrial
• ATP synthase subunit 6
• Mitochondrial Proton-Translocating ATPases

Topics

• Adult
• Amino Acid Sequence
• Ataxia (genetics)
• Base Sequence
• Brain (pathology)
• DNA, Mitochondrial (genetics)
• Humans
• Male
• Mitochondrial Proton-Translocating ATPases (genetics)
• Molecular Sequence Data
• Muscle Weakness (genetics)
• Point Mutation
• Retinitis Pigmentosa (genetics)
• Sequence Analysis
• Syndrome