Article
A mitochondrial myopathy-associated tRNASer(UCN) 7453G>A mutation alters tRNA metabolism and mitochondrial function.
Mitochondrion - 1 Mar 2021
Lin Yan, Xu Xuebi, Wang Wei, Liu Fuchen, Zhao Dandan, Li Duoling, Ji Kunqian, Li Wei, Zhao Yuying, Yan Chuanzhu
Abstract excerpt
BACKGROUND: Mitochondrial disorders are a group of heterogeneous diseases characterized by biochemical disturbances in oxidative phosphorylation (OXPHOS). Mutations in mitochondrial transfer RNA (mt-tRNA) genes are the most frequently in mitochondrial disease. However, few studies have detailed the molecular mechanisms behind these mutations. METHODS: We performed clinical evaluation, genetic analysis, muscle...
Topics
- Adolescent
- Cell Line
- Female
- Genome, Mitochondrial
- High-Throughput Nucleotide Sequencing
- Humans
- Membrane Potential, Mitochondrial
- Mitochondrial Myopathies
- Models, Molecular
- Nucleic Acid Conformation
- Polymorphism, Single Nucleotide
- Protein Biosynthesis