Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy

Claudia Nesti, Maria Chiara Meschini, Brigitte Meunier, Michele Sacchini, Stefano Doccini, Alessandro Romano, Sara Petrillo, Ilaria Pezzini, Nadir Seddiki, Anna Rubegni, Fiorella Piemonte, M. Alice Donati, Gael Brasseur, Filippo M. Santorelli

Research output: Contribution to journalArticlepeer-review


We describe the case of a woman in whom combination of a mitochondrial (MT-CYB) and a nuclear (SDHB) mutation was associated with clinical and metabolic features suggestive of a mitochondrial disorder. The mutations impaired overall energy metabolism in the patient's muscle and fibroblasts and increased cellular susceptibility to oxidative stress. To clarify the contribution of each mutation to the phenotype, mutant yeast strainswere generated.Asignificant defect in strains carrying the Sdh2 mutation, either alone or in combination with the cytb variant,was observed. Our data suggest that the SDHB mutationwas causative of the mitochondrial disorder in our patient with a possible cumulative contribution of the MT-CYB variant. To our knowledge, this is the first association of bi-genomic variants in the mtDNA and in a nuclear gene encoding a subunit of complex II.

Original languageEnglish
Article numberddv078
Pages (from-to)3248-3256
Number of pages9
JournalHuman Molecular Genetics
Issue number11
Publication statusPublished - Dec 15 2014

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)
  • Molecular Biology

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