Abstract:
:Mutations in mitochondrial DNA (mtDNA), especially in mitochondrial 12S rRNA and transfer RNA(tRNA)Ser(UCN) genes, are important causes of non‑syndromic hearing loss. However, the molecular mechanism underlying mt‑tRNA mutations in clinical hearing impairment are not fully understood. The present study assessed the molecular characterization of two Chinese families with non‑syndromic hearing loss, who both exhibited very low penetrance of deafness (9.1 and 12.5% for Family 1 and 2, respectively). Mutational analysis of the complete mtDNA genes identified the presence of cytochrome c oxidase 1/tRNASer(UCN) G7444A and tRNASer(UCN) C7492T mutations, together with polymorphisms belonging to human mitochondrial haplogroup D4 and G2b, respectively. Moreover, the G7444A and C7492T mutations occurred at highly conserved tRNASer(UCN) nucleotides and may cause tRNA metabolism failure, which is involved in mitochondrial translation defects. Therefore, the G7444A and C7492T mutations may lead to the mitochondrial dysfunction that responsible for deafness. However, the absence of any functional variants in Gap junction β‑2, Solute Carrier Family 26 Member 4 and TRNA 5‑methylaminomethyl‑2‑thiouridylate methyltransferase suggested that nuclear genes may not play active roles in the occurrence of deafness. In the present study, the observed incomplete penetrance of hearing loss and mild mitochondrial dysfunction indicated that mtDNA G7444A and C7492T mutations are insufficient to produce the deafness phenotype. Therefore, other risk factors such as environmental factors and epigenetic regulation may be involved in the pathogenesis of hearing loss in the families recruited in the present study.
journal_name
Mol Med Repjournal_title
Molecular medicine reportsauthors
Peng W,Zhong Y,Zhao X,Yuan Jdoi
10.3892/mmr.2020.11100subject
Has Abstractpub_date
2020-07-01 00:00:00pages
77-86issue
1eissn
1791-2997issn
1791-3004journal_volume
22pub_type
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