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The role of mitochondrial (mt)DNA variations in hearing loss have been studied extensively; in particular, the well‑known pathogenic A1555G mutation in the human mitochondrial 12S ribosomal RNA gene is associated with aminoglycoside‑induced and non‑syndromic hearing loss. The present paper described a Chinese pedigree with hearing impairments. We first performed polymerase chain reaction and direct sequence analysis for the mtDNA genes. Additionally, the GJB2 gene mutations were also genotyped. Notably, this family had a very high penetrance of deafness (66.7 and 33.3%; including and excluding aminoglycoside use, respectively). Sequence analysis of the mtDNA genes from the matrilineal relatives identified the occurrence of A1555G mutation, as well as the tRNAAsp A7551G mutation. The A7551G mutation occurred at position 37 in the anticodon stem of tRNAAsp, which is extremely conserved among various species. The nucleotide at this position is often chemically modified and thus contributes to the maintenance of functional tRNAAsp, therefore, this mutation may cause an imbalance in the level of tRNAAsp and lead to mitochondrial dysfunction which is involved in the pathogenesis of hearing loss. Taken together, the findings of the present study demonstrated that the A7551G mutation may have contributed to the deafness phenotype caused by the A1555G mutation.

molecular medicine reports

The mitochondrial transfer RNAAsp A7551G mutation may contribute to the clinical expression of deafness associated with the A1555G mutation in a pedigree with hearing impairment