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

Arch Neurol. 2005 Mar;62(3):473-6. doi: 10.1001/archneur.62.3.473.


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.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Amino Acid Sequence
  • DNA, Mitochondrial / genetics*
  • Electron Transport Complex I / genetics*
  • Humans
  • MELAS Syndrome / enzymology
  • MELAS Syndrome / genetics*
  • MELAS Syndrome / pathology
  • MERRF Syndrome / enzymology
  • MERRF Syndrome / genetics*
  • MERRF Syndrome / pathology
  • Male
  • Mitochondrial Proteins
  • Molecular Sequence Data
  • Mutation*
  • Protein Subunits / genetics*
  • Succinate Dehydrogenase / genetics
  • Succinate Dehydrogenase / metabolism


  • DNA, Mitochondrial
  • Mitochondrial Proteins
  • Protein Subunits
  • Succinate Dehydrogenase
  • MT-ND5 protein, human
  • Electron Transport Complex I