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

Mkaouar-Rebai, Emna; Chamkha, Imen LU ; Mezghani, Najla; Ben Ayed, Imen and Fakhfakh, Faiza (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
publishing date
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
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
2016-10-13 05:13:30
@misc{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&gt;G mutation and two families with the novel 12S rRNA m.735A&gt;G transition were detected in patients with hearing loss. Three cases with m.8993T&gt;G mutation, two patients with the novel m.5523T&gt;G and m.5559A&gt;G mutations in the tRNA(Trp) gene, and two individuals with the undescribed m.9478T&gt;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&gt;G mutation and the tRNA(Ile) m.4316A&gt;G variation. Besides, multiple mitochondrial deletions were detected in patients with KSS, PS, and Wolfram syndrome. The m.14709T&gt;C mutation in the tRNA(Glu) was reported in four maternally inherited diabetes and deafness patients and a novel tRNA(Val) m.1640A&gt;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},
  keyword      = {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    = {ARRAY(0x9bdacf0)},
  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},
  volume       = {24},
  year         = {2013},
}