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Mitochondrial tRNASer(UCN) 7471delC may be a novel mutation associated with maternally transmitted hypertension
Ping Yang1, Peng Wu2, Xing Liu1
1Department of Vasculocardiology, The Affiliated Hospital of Southwest Medical University, NO 25 Taiping Street, Luzhou City, 646000, Sichuan Province, China.
Insights
A novel mitochondrial DNA mutation, 7471delC in tRNASer(UCN), was identified in a Chinese family with essential hypertension. This mutation may be a risk factor for maternally inherited high blood pressure.
Area of Science:
- Genetics
- Molecular Biology
- Cardiovascular Research
Background:
- Essential hypertension (EH) is a complex cardiovascular disease with a significant genetic component.
- Mitochondrial DNA (mtDNA) mutations have been implicated in various human diseases, but their role in EH is not fully understood.
- Maternal inheritance patterns in some EH families suggest potential involvement of mtDNA.
Purpose of the Study:
- To investigate the association between mitochondrial DNA (mtDNA) mutations and essential hypertension (EH).
- To identify novel genetic variants in mtDNA that may contribute to the pathogenesis of EH.
- To analyze the functional and evolutionary significance of identified mutations.
Main Methods:
- Clinical, genetic, and molecular analysis of a Han Chinese pedigree with maternally inherited EH.
- Screening of complete mtDNA genes using PCR and direct Sanger sequencing.
- Bioinformatic analysis, including evolutionary conservation assessment and secondary structure evaluation of mt-tRNASer(UCN) using RNA Fold Webserver, and pathogenicity scoring.
Main Results:
- A novel tRNASer(UCN) 7471delC mutation was identified in matrilineal relatives with EH.
- The 7471delC mutation occurred in a highly conserved region of the tRNASer(UCN), affecting its secondary structure.
- Bioinformatic analysis suggested the 7471delC mutation may be 'possibly pathogenic' for EH.
Conclusions:
- The 7471delC mutation may impair mitochondrial function and contribute to the pathogenesis of EH.
- This novel mtDNA mutation is a potential risk factor for maternally transmitted essential hypertension.
- Further research is warranted to elucidate the precise mechanisms by which this mutation contributes to EH.
Objective:
The objective of the study was to investigate the association between mitochondrial DNA (mtDNA) mutations and essential hypertension (EH).
Methods:
One Han Chinese pedigree with maternally inherited EH was recruited in the current study. The matrilineal relatives from this family underwent clinical, genetic, and molecular analysis. Moreover, the mtDNA gene mutations were screened by PCR and direct Sanger sequence. Evolutionary conservation was performed and the secondary structure of mt-tRNASer(UCN) with and without the 7471delC was evaluated by the RNA Fold Webserver program. Moreover, the pathogenicity scoring system was used to assess the 7471delC.
Results:
This Chinese pedigree exhibited a relative high penetrance and expressivity of EH. Of 13 matrilineal relatives, 5 of them suffered from high blood pressure (BP). Genetic analysis of the complete mtDNA genes showed the presence of a novel tRNASer(UCN) 7471delC, together with a set of polymorphisms belonging to the human mitochondrial haplogroup G2a1. In fact, the 7471delC occurred within the T-stem and extra arm of tRNASer(UCN), which was very conserved from bacteria to human mitochondria. Interestingly, the 7472insC which was located at the same position had been regarded as a pathogenic mutation associated with non-syndromic hearing loss. In addition, bioinformatics analysis revealed that the 7471delC affected the secondary structure of tRNASer(UCN). The pathogenicity scoring system showed that the 7471delC may be "possibly pathogenic" associated with EH.
Conclusion:
We believed that the 7471delC may impair the mitochondrial functional and played an active role in the pathogenesis of EH in this pedigree. The 7471delC may be a novel risk factor for maternally transmitted EH.
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