دورية أكاديمية
أعرض في EDS

Novel m.15434C>A (p.230L>I) Mitochondrial Cytb Gene Missense Mutation Associated with Dilated Cardiomyopathy.

التفاصيل البيبلوغرافية
العنوان: Novel m.15434C>A (p.230L>I) Mitochondrial Cytb Gene Missense Mutation Associated with Dilated Cardiomyopathy.
المؤلفون: Zarrouk Mahjoub S; Genetics Laboratory and Research Unit of Genetics Epidemiology and Molecular, Faculty of Medicine of Tunis, Tunis 1007, Tunisia., Mehri S, Ourda F, Finsterer J, Ben Arab S
المصدر: ISRN cardiology [ISRN Cardiol] 2012; Vol. 2012, pp. 251723. Date of Electronic Publication: 2012 Jul 03.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Hindawi Pub. Corp Country of Publication: Egypt NLM ID: 101566293 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2090-5599 (Electronic) Linking ISSN: 20905580 NLM ISO Abbreviation: ISRN Cardiol Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Cairo : Hindawi Pub. Corp.
مستخلص: 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.
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تواريخ الأحداث: Date Created: 20120720 Date Completed: 20120823 Latest Revision: 20230502
رمز التحديث: 20240628
مُعرف محوري في PubMed: PMC3395144
DOI: 10.5402/2012/251723
PMID: 22811935
قاعدة البيانات: MEDLINE
الوصف
تدمد:2090-5599
DOI:10.5402/2012/251723