Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders: An overview study. (June 2013)

• Record Type: Journal Article
• Authors: Mkaouar-Rebai, Emna; Chamkha, Imen; Mezghani, Najla; Ayed, Imen Ben; Fakhfakh, Faiza
• Is Part Of: Mitochondrial DNA. Volume 24:Number 3(2013:Jun.)
• Page Start: 163
• Page End: 178
• Publication Date: 2013-06
• Subjects: Mitochondrial DNA -- Periodicals; Mitochondrial DNA -- Abnormalities -- Periodicals; Nucleotide sequence -- Periodicals; Gene mapping -- Periodicals; 572.869
• DOI: 10.3109/19401736.2012.748045
• Languages: English
• ISSNs: 1940-1736

Abstract

<abstract> <title> <x xml:space="preserve">Abstract</x> </title> <p>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 <italic>12S rRNA</italic> 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 <italic>tRNA<sup>Trp</sup></italic> gene, and two individuals with the undescribed m.9478T>C mutation in the cytochrome <italic>c</italic> oxidase subunit III (<italic>COXIII</italic>) gene were found with LS. In addition, one case with hypertrophic cardiomyopathy and deafness presented the <italic>ND1</italic> m.3395A>G mutation and the <italic>tRNA<sup>Ile</sup></italic> 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 <italic>tRNA<sup>Glu</sup></italic> was reported in four maternally inherited diabetes and deafness patients and a novel <italic>tRNA<sup>Val</sup></italic> m.1640A>G mutation was detected in a MELAS patient.</p> </abstract>