Novel Nucleotide Changes in Mitochondrial COXII, Cytochrome B and tRNAGlu Genes in Patients with Brugada Syndrome
Message:
Abstract:
Introduction
The Brugada syndrome (BrS) belongs to cardiac arrhythmia disorders that is seen on the echocardiogram bands and is a significant cause of sudden death in young adults. At the molecular level, mechanisms that contribute to BrS are mutations in genes that encode for ion channels. It has been reported that the activity of ion channels in cardiomyocytes is sensitive to ATP level. This study aimed to clarify the relationship between variations in mtDNA and the development of BrS.
Methods
single strand conformation polymorphism (SSCP) was used for rapid screening of mtDNA mutations in CoxII, Cytb and tRNAGlu genes in a family with 5 patients and 15 sporadic patients. DNA fragments showing abnormal banding patterns were sequenced for identification of exact mutations.
Results
One new mutation (T8258C) was found in Cox II gene in family members that caused to change phenylalanine amino acid to leucine. In sporadic patients, three different new mutations were also found including a homoplasmic mutation (T14687C) in tRNAGlu gene, a heteroplasmic mutation (G14838A) and a homoplasmic C14766T mutation.
Conclusions
Since the mitochondrion's ATP synthesis is important in heart and this mutation was not identified in control samples, it is possible that these mutations could constitute a predisposing factor that in combination with environmental factors may trigger in patients with BrS.:
Language:
Persian
Published:
Journal of Shaeed Sdoughi University of Medical Sciences Yazd, Volume:22 Issue: 1, 2014
Pages:
981 to 988
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