title: Mitochondrial mutations in patients with congenital heart defects by next generation sequencing technology.
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.
authors.affiliation: 1Department of Genetics,Institute for Experimental Medicine,Istanbul University,Turkey.
authors.forename: Neslihan
authors.initials: N
authors.lastname: Abaci
authors.affiliation: 1Department of Genetics,Institute for Experimental Medicine,Istanbul University,Turkey.
authors.forename: Muzaffer
authors.initials: M
authors.lastname: Arıkan
authors.affiliation: 2Department of Cardiovascular Surgery, Istanbul Medical Faculty,Istanbul University,Turkey.
authors.forename: Türkan
authors.initials: T
authors.lastname: Tansel
authors.affiliation: 2Department of Cardiovascular Surgery, Istanbul Medical Faculty,Istanbul University,Turkey.
authors.forename: Nazlı
authors.initials: N
authors.lastname: Sahin
authors.affiliation: 1Department of Genetics,Institute for Experimental Medicine,Istanbul University,Turkey.
authors.forename: Aris
authors.initials: A
authors.lastname: Cakiris
authors.affiliation: 1Department of Genetics,Institute for Experimental Medicine,Istanbul University,Turkey.
authors.forename: Ferda
authors.initials: F
authors.lastname: Pacal
authors.affiliation: 1Department of Genetics,Institute for Experimental Medicine,Istanbul University,Turkey.
authors.forename: Sema
authors.initials: S
authors.lastname: Sırma Ekmekci
authors.affiliation: 2Department of Cardiovascular Surgery, Istanbul Medical Faculty,Istanbul University,Turkey.
authors.forename: Emre
authors.initials: E
authors.lastname: Gök
authors.affiliation: 1Department of Genetics,Institute for Experimental Medicine,Istanbul University,Turkey.
authors.forename: Duran
authors.initials: D
authors.lastname: Üstek
mesh_terms: D009202:Cardiomyopathies / Q000151:congenital / Q000235:genetics*; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing / Q000379:methods; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012335:RNA, Ribosomal / Q000235:genetics; D012343:RNA, Transfer / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000379:methods; D014421:Turkey
chemical_list: D004272:DNA, Mitochondrial; D012335:RNA, Ribosomal; D012343:RNA, Transfer
keywords: mitochondrial mutations