Novel Mitochondrial DNA ND5 Mutation in a Patient with Clinical Features of MELAS and MERRF

Overview

Journal Arch Neurol

Specialty Neurology

Date 2005 Mar 16

PMID 15767514

Citations 22

Authors

Ali B Naini

Jiesheng Lu

Petra Kaufmann

Richard A Bernstein

Michelangelo Mancuso

Eduardo Bonilla

Michio Hirano

Salvatore DiMauro

Affiliations

Soon will be listed here.

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.

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Richter U, McFarland R, Taylor R, Pickett S FEBS Lett. 2021; 595(8):1003-1024.

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