Publications by authors named "Aishanjiang Maerhaba"
Mutations in the mitochondrial tRNAs have been reported to be the important cause of hearing loss. However, only a few cases have been identified thus far and the prevalence of mitochondrial tRNA mutations in hearing-impaired patients remain unclear. Here we performed the mutational analysis of 22 mitochondrial tRNA genes in a large cohort of 887 Han Chinese subjects with hearing loss by Sanger sequencing.
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- Researchers discovered that a specific mutation in mitochondrial tyrosyl-tRNA synthetase 2 (YARS2) interacts with a tRNA mutation to enhance the severity of deafness in a Chinese family.
- The tRNA mutation leads to changes in its structure and function, resulting in defects in how the tRNA is processed and utilized inside the cell.
- Cell lines with both mutations showed significantly worse issues with aminoacylation and mitochondrial function compared to those with only one of the mutations, highlighting the combined effect of these genetic changes on cellular health and deafness.
Mitochondrial tRNA processing defects were associated with human diseases but their pathophysiology remains elusively. The hypertension-associated m.4401A>G mutation resided at a spacer between mitochondrial tRNAMet and tRNAGln genes.
View Article and Find Full Text PDFMitochondrial DNA mutations play an important role in hereditary hearing loss. The present study aimed at identifying more novel genetic variants of mitochondrial DNA. Complete Mitochondrial genomes were detected in 97 Northwestern Chinese probands with non-syndromic hearing loss and 376 control subjects.
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