Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: an overview study

Emna Mkaouar-Rebai, Imen Chamkha, Najla Mezghani, Imen Ben Ayed, Faiza Fakhfakh

Research output: Contribution to journalArticlepeer-review


To investigate the spectrum of common mitochondrial mutations in Tunisia during the years of 2002-2012, 226 patients with mitochondrial disorders were clinically diagnosed with hearing loss, Leigh syndrome (LS), diabetes, cardiomyopathy, Kearns-Sayre syndrome (KSS), Pearson syndrome (PS), myopathy, mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes syndrome (MELAS) and Wolfram syndrome. Restriction fragment length polymorphism (PCR-RFLP), radioactive PCR, single specific primer-PCR (SSP-PCR) analysis and PCR-sequencing methods were used to identify the mutations. Two cases with m.1555A>G mutation and two families with the novel 12S rRNA m.735A>G transition were detected in patients with hearing loss. Three cases with m.8993T>G mutation, two patients with the novel m.5523T>G and m.5559A>G mutations in the tRNA(Trp) gene, and two individuals with the undescribed m.9478T>C mutation in the cytochrome c oxidase subunit III (COXIII) gene were found with LS. In addition, one case with hypertrophic cardiomyopathy and deafness presented the ND1 m.3395A>G mutation and the tRNA(Ile) m.4316A>G variation. Besides, multiple mitochondrial deletions were detected in patients with KSS, PS, and Wolfram syndrome. The m.14709T>C mutation in the tRNA(Glu) was reported in four maternally inherited diabetes and deafness patients and a novel tRNA(Val) m.1640A>G mutation was detected in a MELAS patient.

Original languageEnglish
Pages (from-to)163-78
Number of pages16
JournalMitochondrial DNA
Issue number3
Publication statusPublished - 2013 Jun
Externally publishedYes

Free keywords

  • Case-Control Studies
  • DNA, Mitochondrial
  • Humans
  • Mitochondrial Diseases
  • Mutation
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Tunisia


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