Novel m.15434C>A (p.230L>I) Mitochondrial Cytb Gene Missense Mutation Associated with Dilated Cardiomyopathy
المؤلفون المشاركون
Finsterer, Josef
Zarrouk Mahjoub, Sinda
Ben Arab, Saïda
Ourda, Fatma
Mehri, Sounira
المصدر
العدد
المجلد 2012، العدد 2012 (31 ديسمبر/كانون الأول 2012)، ص ص. 1-6، 6ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2012-07-03
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الملخص 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.
نمط استشهاد جمعية علماء النفس الأمريكية (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
نمط استشهاد الجمعية الأمريكية للغات الحديثة (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
نمط استشهاد الجمعية الطبية الأمريكية (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
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-457527
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر