Identification of novel mutations in five patients with mitochondrial encephalomyopathy

Lucia Valente, Daniela Piga, Eleonora Lamantea, Franco Carrara, Graziella Uziel, Paola Cudia, Anna Zani, Laura Farina, Lucia Morandi, Marina Mora, Antonella Spinazzola, Massimo Zeviani, Valeria Tiranti

Research output: Contribution to journalArticlepeer-review


MELAS, MERRF, LHON and NARP, are well-established mitochondrial syndromes associated with specific point mutations of mitochondrial DNA (mtDNA). However, these recurrent mtDNA mutations account for only a minority of mitochondrial disease cases. To evaluate the impact of novel mtDNA mutations, we performed mtDNA sequence analysis in muscle and other tissues of 240 patients with different mitochondrial neuromuscular syndromes. We identified a total of 33 subjects with novel, private or uncommon mutations. Among these, five novel mutations were found in both paediatric and adult cases. We here report on the clinical description of these patients, as well as the biochemical and molecular genetic characterization of the corresponding mutations. Patients 1 and 2 showed changes in ND genes, patient 3 carried a heteroplasmic deletion in the COI gene, patients 4 and 5 carried heteroplasmic mutations in tRNATrp and tRNAPhe, respectively. Altogether, these data indicate that mtDNA analysis must become part of the routine screening for mitochondrial disorders.

Original languageEnglish
Pages (from-to)491-501
Number of pages11
JournalBiochimica et Biophysica Acta - Bioenergetics
Issue number5
Publication statusPublished - May 2009


  • Mitochondrial DNA
  • mtDNA mutation
  • mtDNA Sequence analysis
  • Respiratory chain complex deficiency

ASJC Scopus subject areas

  • Biochemistry
  • Biophysics
  • Cell Biology


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