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Mitochondrial mutations in patients with congenital heart defects by next generation sequencing technology

Published online by Cambridge University Press:  10 June 2014

Neslihan Abaci ,
Muzaffer Arıkan ,
Türkan Tansel ,
Nazlı Sahin ,
Aris Cakiris ,
Ferda Pacal ,
Sema Sırma Ekmekci ,
Emre Gök  and
Duran Üstek
Neslihan Abaci
Affiliation:
Department of Genetics, Institute for Experimental Medicine, Istanbul University, Turkey
Muzaffer Arıkan
Affiliation:
Department of Genetics, Institute for Experimental Medicine, Istanbul University, Turkey
Türkan Tansel
Affiliation:
Department of Cardiovascular Surgery, Istanbul Medical Faculty, Istanbul University, Turkey
Nazlı Sahin
Affiliation:
Department of Cardiovascular Surgery, Istanbul Medical Faculty, Istanbul University, Turkey
Aris Cakiris
Affiliation:
Department of Genetics, Institute for Experimental Medicine, Istanbul University, Turkey
Ferda Pacal
Affiliation:
Department of Genetics, Institute for Experimental Medicine, Istanbul University, Turkey
Sema Sırma Ekmekci
Affiliation:
Department of Genetics, Institute for Experimental Medicine, Istanbul University, Turkey
Emre Gök
Affiliation:
Department of Cardiovascular Surgery, Istanbul Medical Faculty, Istanbul University, Turkey
Duran Üstek*
Affiliation:
Department of Genetics, Institute for Experimental Medicine, Istanbul University, Turkey
*
Correspondence to: D. Üstek, Vakif Gureba c. I.U. DETAE Genetik AD, Şehremini, İstanbul. Tel: +90 2124142000x33316; Fax:+90 543 210 10 79; E-mail: [email protected]
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Abstract

It has been shown that mitochondrial deoxyribo nucleic acid mutations may play an important role in the development of cardiomyopathy, and various types of cardiomyopathy can be attributed to disturbed mitochondrial oxidative energy metabolism. Several studies have described many mutations in mitochondrial genes encoding for subunits of respiratory chain complexes. Thus, recent studies confirm that pathologic mitochondrial deoxyribo nucleic acid mutations are a major reason of diseases and determining them by next-generation sequencing will improve our understanding of dysregulation of heart development. To analyse mitochondrial deoxyribo nucleic acid mutations, the entire mitochondrial deoxyribo nucleic acid was amplified in two overlapping polymerase chain reaction fragments from the cardiac tissue of the 22 patients with congenital heart disease, undergoing cardiac surgery. Mitochondrial deoxyribo nucleic acid was deep sequenced by next-generation sequencing. A total of 13 novel mitochondrial deoxyribo nucleic acid mutations were identified in nine patients. Of the patients, three have novel mutations together with reported cardiomyopathy mutations. In all, 65 mutations were found, and 13 of them were unreported. This study represents the most comprehensive mitochondrial deoxyribo nucleic acid mutational analysis in patients with congenital heart disease.

Keywords

Congenital heart defectsnext-generation sequencingmitochondrial mutations
Type
Original Articles
Information
Cardiology in the Young , Volume 25 , Supplement 4 , April 2015 , pp. 705 - 711
Copyright
© Cambridge University Press 2014 

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