Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders : an overview study
(2013) In Mitochondrial DNA 24(3). p.78-163- Abstract
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.... (More)
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.
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- author
- Mkaouar-Rebai, Emna ; Chamkha, Imen LU ; Mezghani, Najla ; Ben Ayed, Imen and Fakhfakh, Faiza
- publishing date
- 2013-06
- type
- Contribution to journal
- publication status
- published
- keywords
- Case-Control Studies, DNA, Mitochondrial, Humans, Mitochondrial Diseases, Mutation, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length, Tunisia
- in
- Mitochondrial DNA
- volume
- 24
- issue
- 3
- pages
- 16 pages
- publisher
- Informa Healthcare
- external identifiers
-
- scopus:84878061215
- pmid:23301511
- ISSN
- 1940-1744
- DOI
- 10.3109/19401736.2012.748045
- language
- English
- LU publication?
- no
- id
- a945cee9-14e7-4a90-a3da-f8b1ecf6475e
- date added to LUP
- 2016-09-14 13:35:58
- date last changed
- 2024-01-04 12:18:27
@article{a945cee9-14e7-4a90-a3da-f8b1ecf6475e, abstract = {{<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 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.</p>}}, author = {{Mkaouar-Rebai, Emna and Chamkha, Imen and Mezghani, Najla and Ben Ayed, Imen and Fakhfakh, Faiza}}, issn = {{1940-1744}}, keywords = {{Case-Control Studies; DNA, Mitochondrial; Humans; Mitochondrial Diseases; Mutation; Polymerase Chain Reaction; Polymorphism, Restriction Fragment Length; Tunisia}}, language = {{eng}}, number = {{3}}, pages = {{78--163}}, publisher = {{Informa Healthcare}}, series = {{Mitochondrial DNA}}, title = {{Screening of mitochondrial mutations in Tunisian patients with mitochondrial disorders : an overview study}}, url = {{http://dx.doi.org/10.3109/19401736.2012.748045}}, doi = {{10.3109/19401736.2012.748045}}, volume = {{24}}, year = {{2013}}, }