Novel m.15434C>A (p.230L>I) Mitochondrial Cytb Gene Missense Mutation Associated with Dilated Cardiomyopathy
Joint Authors
Finsterer, Josef
Zarrouk Mahjoub, Sinda
Ben Arab, Saïda
Ourda, Fatma
Mehri, Sounira
Source
Issue
Vol. 2012, Issue 2012 (31 Dec. 2012), pp.1-6, 6 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2012-07-03
Country of Publication
Egypt
No. of Pages
6
Main Subjects
Abstract EN
Background.
Previously it has been shown that various types of hypertrophic and dilative cardiomyopathy (hCMP, dCMP) can be attributed to disturbed mitochondrial oxidative energy metabolism.
Several studies described mutations in mitochondrial DNA-located genes encoding for subunits of respiratory chain complexes, including the cytochrome b gene (MT-CYB), causing CMPs.
Methods and Results.
In the present study the MT-CYB gene was analysed in 30 patients with hCMP, 40 patients with dCMP, and 50 controls for alterations.
Altogether, 27 MT-CYB variants were detected.
Twenty-four of them were single nucleotide polymorphisms defining common haplogroups.
The variant m.15434C>A was found in a single patient with severe dCMP and assessed as novel mutation, since it was not found in healthy controls or available data sets, and was nonhaplogroup associated with Phylotree.
This variant altered an amino acid (L230I) with a high interspecific amino acid conservation index (CI=97.7%) indicative of the functional importance of the residue.
Conclusions.
Though the L230I mutation seems to play a causative role for dCMP, prospective studies on yeast or transgenic mice models with defined mutation are warranted to study the pathogenetic impact of this mutation.
American Psychological Association (APA)
Zarrouk Mahjoub, Sinda& Mehri, Sounira& Ourda, Fatma& Finsterer, Josef& Ben Arab, Saïda. 2012. Novel m.15434C>A (p.230L>I) Mitochondrial Cytb Gene Missense Mutation Associated with Dilated Cardiomyopathy. ISRN Cardiology،Vol. 2012, no. 2012, pp.1-6.
https://search.emarefa.net/detail/BIM-457527
Modern Language Association (MLA)
Zarrouk Mahjoub, Sinda…[et al.]. Novel m.15434C>A (p.230L>I) Mitochondrial Cytb Gene Missense Mutation Associated with Dilated Cardiomyopathy. ISRN Cardiology No. 2012 (2012), pp.1-6.
https://search.emarefa.net/detail/BIM-457527
American Medical Association (AMA)
Zarrouk Mahjoub, Sinda& Mehri, Sounira& Ourda, Fatma& Finsterer, Josef& Ben Arab, Saïda. Novel m.15434C>A (p.230L>I) Mitochondrial Cytb Gene Missense Mutation Associated with Dilated Cardiomyopathy. ISRN Cardiology. 2012. Vol. 2012, no. 2012, pp.1-6.
https://search.emarefa.net/detail/BIM-457527
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-457527