Although there are increasing reports showed a positive link between mitochondrial tRNACys G5821A mutation and mitochondrial diseases. However, its role remained controversial. In this paper, we took a comprehensive data analysis concerning this mutation and clinical diseases. Our data indicated that this mutation lacked an evolutionary conservation and did not get involved in the thermodynamic change of tRNACys gene. Therefore, based on these observations, we proposed that G5821A mutation is not deleterious mutation.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3109/19401736.2014.892107 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Premature ovarian insufficiency may be associated with the mutations in mitochondrial tRNA genes.
Endocr J
January 2019
Central Laboratory, Hangzhou First People's Hospital, Zhejiang University, School of Medicine, Hangzhou, 310006, China.
Premature ovarian insufficiency (POI) is a common endocrine disorder featured by the triad constituting of amenorrhea for at least four months, to date, the molecular pathogenesis of POI is largely undetermined. Despite several investigations have reported an increase in reactive oxygen species (ROS) content in idiopathic POI, the role of mitochondrial DNA (mtDNA) mutations/variants in the progression of POI has not been widely investigated. The current study aimed to explore the association between mt-tRNA mutations/variants and POI; we first used the PCR-Sanger sequencing to detect the mutations/variants in mt-tRNA genes from 50 POI patients and 30 healthy subjects.
View Article and Find Full Text PDFMolecular characterization of mitochondrial transferRNAGln and transferRNAMet A4401G mutations in a Chinese family with hypertension.
Mol Med Rep
April 2017
Department of Cardiothoracic Surgery, The First Affiliated Hospital, Wenzhou Medical University, Wenzhou, Zhejiang 325035, P.R. China.
Mutations in mitochondrial (mt)transfer (t)RNA (mt‑tRNA) have been reported to serve important roles in hypertension. To determine the underlying molecular mechanisms of mt‑tRNA mutations in hypertension, the present study screened for mt‑tRNA mutations in a Chinese family with a high incidence of essential hypertension. Sequence analysis of the mt‑tRNA genes in this family revealed the presence of an A4401G mutation in the glycine‑and methionine‑tRNA genes, and a G5821A mutation in the cysteine‑tRNA (tRNACys) gene.
View Article and Find Full Text PDFAnalysis of mitochondrial alterations in Brazilian patients with sensorineural hearing loss using MALDI-TOF mass spectrometry.
BMC Med Genet
May 2016
Center for Molecular and Genetic Engineering (CBMEG), University of Campinas (UNICAMP), Cidade Universitária Zeferino Vaz, Avenida Cândido Rondon 400, PO Box 6010, 13083-875, Campinas, São Paulo, Brazil.
Article Synopsis
- Mutations in mitochondrial DNA (mtDNA) are linked to hearing loss, and this study focused on Brazilian patients to explore this connection.
- Researchers used advanced genotyping methods to screen known mitochondrial gene mutations in individuals with hearing loss and controls.
- The study found several mitochondrial alterations, with the A1555G mutation being notably common, indicating its significance in hearing loss, and for the first time identified the G8363A mutation in Brazilian patients.
[The mitochondrial tRNAMet/tRNAGlnA4401G and tRNACysG5821A mutations may be associated with hypertension in two Han Chinese families].
Yi Chuan
February 2014
School of Laboratory Medicine and Life Science, Wenzhou Medical University, Wenzhou 325035, China; Zhejiang Provincial Key Laboratory of Medical Genetics, Wenzhou Medical University, Wenzhou 325035, China; Institute of Genetics, Zhejiang University, Hangzhou 310023, China.
Mitochondrial tRNA genes are the hot spots for mutations associated with essential hypertension. We report here the clinical and molecular genetic characterization of two Han Chinese pedigrees with materially inherited essential hypertension. Clinical evaluation revealed the variable severity and age-at-onset of hypertension among matrilineal relatives.
View Article and Find Full Text PDFIs mitochondrial tRNA Cys G5821A a deleterious mutation?
Mitochondrial DNA
April 2015
The First Affiliated Hospital of Henan University of Science and Technology, Luoyang , China.
Although there are increasing reports showed a positive link between mitochondrial tRNACys G5821A mutation and mitochondrial diseases. However, its role remained controversial. In this paper, we took a comprehensive data analysis concerning this mutation and clinical diseases.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!