Journal
MITOCHONDRIAL DNA
Volume 23, Issue 6, Pages 461-465Publisher
INFORMA HEALTHCARE
DOI: 10.3109/19401736.2012.710205
Keywords
Hypertension; mitochondrial DNA mutation; tRNA metabolism; Chinese family
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Funding
- Nanjing Medical University [2010NJMU011]
- Ministry of Science and Technology from Shanghai Pudong new area [PKJ2010-Y08]
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Mutations in mitochondrial DNA are associated with cardiovascular diseases. We reported here molecular characterization of a three-generation Han Chinese family with maternally transmitted hypertension. Most strikingly, this family exhibited a high penetrance of hypertension. Sequence analysis of mitochondrial genome showed the presence of 12,338T>C mutation and 12,330A>G mutation and distinct sets of polymorphisms belonging to the Asian haplogroup F2b. Interestingly, the well-known 12,338T>C mutation, which caused a change of methionine in the translational initiation codon of ND5, also localized in two nucleotides adjacent to the 30 end of tRNA(Leu(CUN)), was implied to cause a decrease in ND5 mRNA level as well as to alter tRNA(Leu(CUN)) stability level. Moreover, the highly conserved 12,330A. Gmutation, which disrupted the base pairing (6T-67A) in acceptor arm of tRNA(Leu(CUN)), may result in the failure of tRNA(Leu(CUN)) metabolism. Therefore, the combination of ND5 12,338T>C and tRNA(Leu(CUN)) 12,330A > G mutations may contribute to the high penetrance of hypertension in this Chinese family.
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