Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS

Filippo M. Santorelli, Kurenai Tanji, Romana Kulikova, Sara Shanske, Laura Vilarinho, Arthur P. Hays, Salvatore DiMauro

Research output: Contribution to journalArticlepeer-review


We report a novel G13513A mutation in the mitochondrial ND5 gene in a patient who had morphologically and biochemically abnormal muscle mitochondria and died at age 45 with a diagnosis of MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes). The mutation affects an evolutionarily conserved nucleotide and was heteroplasmic in muscle, leukocytes, and several autopsy tissues, including brain. The mutation was less abundant (<5%) in leukocytes from an asymptomatic sister and was not found in over 100 controls, thus satisfying accepted criteria for pathogenicity. Our report reinforces the concept of genetic heterogeneity in MELAS and confirms that MELAS can be due to mutations in polypeptide-coding mtDNA genes.

Original languageEnglish
Pages (from-to)326-328
Number of pages3
JournalBiochemical and Biophysical Research Communications
Issue number2
Publication statusPublished - Sept 18 1997

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Molecular Biology


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