Research Advances on Deafness Genes Associated with Mitochondrial tRNA-37 Modifications.

Abstract

As the most common cause of speech disorders, the etiological study of deafness is important for the diagnosis and treatment of deafness. The mitochondrial genome has gradually become a hotspot for deafness genetic research. Mitochondria are the core organelles of energy and material metabolism in eukaryotic cells. Human mitochondria contain 20 amino acids, except for tRNALeu and tRNASer, which have 2 iso-receptors, the other 18 amino acids correspond to unique tRNAs one by one, so mutations in any one tRNA may lead to protein translation defects in mitochondria and thus affect their oxidative phosphorylation process resulting in the corresponding disease phenotype. Mitochondrial tRNAs are extensively modified with base modifications that contribute to the correct folding of tRNAs and maintain their stability. Defective mitochondrial tRNA modifications are closely associated with the development of mitochondrial diseases. The in-depth study found that modification defects of mammalian mitochondrial tRNAs are associated with deafness, especially the nucleotide modification defect of mt-tRNA-37. This article reviews the research on mitochondrial tRNAs, nucleotide modification structure of mitochondrial tRNA-37, and nuclear genes related to modification defects to provide new ideas for the etiological study of deafness.

• Authors: Panpan Bian, Jing Chai, Baicheng Xu
• Journal: The journal of international advanced otology (J Int Adv Otol) Vol. 19 Issue 5 Pg. 414-419 (Oct 2023) ISSN: 2148-3817 [Electronic] Turkey
• PMID: 37789629 (Publication Type: Review, Journal Article)

Chemical References

• RNA, Transfer
• Amino Acids
• Nucleotides

Topics

• Animals
• Humans
• Mitochondria (genetics, metabolism)
• RNA, Transfer (genetics, metabolism)
• Mutation
• Amino Acids (genetics, metabolism)
• Nucleotides (metabolism)
• Deafness (genetics)
• Mammals (genetics, metabolism)