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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
The mitochondrial ND1 m.3337G>A mutation associated to multiple mitochondrial DNA deletions in a patient with Wolfram syndrome and cardiomyopathy
Biochemical and Biophysical Research Communications, Volume 411, No. 2, Year 2011
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Description
Wolfram syndrome (WFS) is a rare hereditary disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). It is a heterogeneous disease and full characterization of all clinical and biological features of this disorder is difficult. The wide spectrum of clinical expression, affecting several organs and tissues, and the similarity in phenotype between patients with Wolfram syndrome and those with certain types of respiratory chain diseases suggests mitochondrial DNA (mtDNA) involvement in Wolfram syndrome patients. We report a Tunisian patient with clinical features of moderate Wolfram syndrome including diabetes, dilated cardiomyopathy and neurological complications. The results showed the presence of the mitochondrial ND1 m.3337G>A mutation in almost homoplasmic form in 3 tested tissues of the proband (blood leukocytes, buccal mucosa and skeletal muscle). In addition, the long-range PCR amplifications revealed the presence of multiple deletions of the mitochondrial DNA extracted from the patient's skeletal muscle removing several tRNA and protein-coding genes. Our study reported a Tunisian patient with clinical features of moderate Wolfram syndrome associated with cardiomyopathy, in whom we detected the ND1 m.3337G>A mutation with mitochondrial multiple deletions. © 2011 Elsevier Inc.
Authors & Co-Authors
Mezghani, Najla
Tunisia, Sfax
Faculty of Medicine of Sfax
Mnif, Mouna Feki
Tunisia, Sfax
Chu Habib Bourguiba
Mkaouar-Rebai, Emna
Tunisia, Sfax
Faculty of Medicine of Sfax
Kallel, Nozha
Tunisia, Sfax
Chu Habib Bourguiba
Salem, Ikhlass Haj
Tunisia, Sfax
Faculty of Medicine of Sfax
Charfî, Nadia
Tunisia, Sfax
Chu Habib Bourguiba
Abid, Mohamed
Tunisia, Sfax
Chu Habib Bourguiba
Fakhfakh, Faiza
Tunisia, Sfax
Faculty of Medicine of Sfax
Statistics
Citations: 20
Authors: 8
Affiliations: 2
Identifiers
Doi:
10.1016/j.bbrc.2011.06.106
ISSN:
0006291X
e-ISSN:
10902104
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Noncommunicable Diseases