Article: Maternally Inherited Essential Hypertension May Be Associated with the Mutations in Mitochondrial tRNA
Pharmacogenomics and personalized medicine
2024 Volume 17, Page(s) 13–26
Abstract: Background: Mitochondrial DNA (mtDNA) mutations are associated with essential hypertension (EH), but the molecular mechanism remains largely unknown.: Objective: The aim of this study is to explore the association between mtDNA mutations and EH.: ... ...
Abstract | Background: Mitochondrial DNA (mtDNA) mutations are associated with essential hypertension (EH), but the molecular mechanism remains largely unknown. Objective: The aim of this study is to explore the association between mtDNA mutations and EH. Methods: Two maternally inherited families with EH are underwent clinical, genetic and biochemical assessments. mtDNA mutations are screened by PCR-Sanger sequencing and phylogenetic, and bioinformatics analyses are performed to evaluate the pathogenicity of mtDNA mutations. We also generate cytoplasmic hybrid (cybrid) cell lines to analysis mitochondrial functions. Results: Matrilineal relatives exhibit variable degree of clinical phenotypes. Molecular analysis reveals the presence of m.A14693G and m.A14696G mutations in two pedigrees. Notably, the m.A14693G mutation occurs at position 54 in the TψC loop of tRNA Conclusion: The m.A14696G and m.A14693G mutations lead to failure in tRNA |
---|---|
Language | English |
Publishing date | 2024-01-09 |
Publishing country | New Zealand |
Document type | Journal Article |
ZDB-ID | 2508173-1 |
ISSN | 1178-7066 |
ISSN | 1178-7066 |
DOI | 10.2147/PGPM.S436235 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
More links
Kategorien
Order via subito
This service is chargeable due to the Delivery terms set by subito. Orders including an article and supplementary material will be classified as separate orders. In these cases, fees will be demanded for each order.