Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF

Ali B. Naini, Jiesheng Lu, Petra Kaufmann, Richard A. Bernstein, Michelangelo Mancuso, Eduardo Bonilla, Michio Hirano, Salvatore DiMauro*

*Corresponding author for this work

Research output: Contribution to journalArticle

48 Scopus citations

Abstract

Background: The mitochondrial DNA gene encoding subunit 5 of complex I (ND5) has turned out to be a hot spot for mutations associated with mitochondrial encephalomyopathy with lactic acidosis and strokelike episodes (MELAS) and various overlap syndromes. Objective: To describe a novel mutation in the ND5 gene in a young man man with an overlap syndrome of MELAS and myoclonus epilepsy with ragged-red fibers. Design: Case report. Patient: A 25-year-old man had recurrent strokes, seizures, and myoclonus. His mother also had multiple strokes. A muscle biopsy specimen showed no ragged-red fibers but several strongly succinate dehydrogenase-reactive blood vessels. Results: Biochemical analysis showed isolated complex I deficiency and molecular analysis revealed a novel heteroplasmic mutation (G13042A) in the ND5 gene. Conclusions: These data confirm that ND5 is a genetic hot spot for overlap syndromes, including MELAS and strokelike and myoclonus epilepsy with ragged-red fibers.

Original languageEnglish (US)
Pages (from-to)473-476
Number of pages4
JournalArchives of Neurology
Volume62
Issue number3
DOIs
StatePublished - Mar 2005

ASJC Scopus subject areas

  • Arts and Humanities (miscellaneous)
  • Clinical Neurology

Fingerprint Dive into the research topics of 'Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF'. Together they form a unique fingerprint.

  • Cite this

    Naini, A. B., Lu, J., Kaufmann, P., Bernstein, R. A., Mancuso, M., Bonilla, E., Hirano, M., & DiMauro, S. (2005). Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. Archives of Neurology, 62(3), 473-476. https://doi.org/10.1001/archneur.62.3.473