Article
Mitochondrial DNA transcription and translation: clinical syndromes.
Essays in biochemistry - 20 Jul 2018
Boczonadi Veronika, Ricci Giulia, Horvath Rita
Abstract excerpt
Diagnosing primary mitochondrial diseases is challenging in clinical practice. Although, defective oxidative phosphorylation (OXPHOS) is the common final pathway, it is unknown why different mtDNA or nuclear mutations result in largely heterogeneous and often tissue -specific clinical presentations. Mitochondrial tRNA (mt-tRNA) mutations are frequent causes of mitochondrial diseases both in children and adults....
Topics
- DNA, Mitochondrial
- Electron Transport
- Humans
- Mitochondrial Diseases
- Mitochondrial Proteins
- Mutation
- Oxidative Phosphorylation
- Phenotype
- Protein Biosynthesis
- RNA Precursors
- RNA Processing, Post-Transcriptional
- RNA, Messenger
- RNA, Transfer
- Syndrome
- Transcription, Genetic