The role of mitochondrial DNA mutations in hearing loss.

Abstract

Mutations in mitochondrial DNA (mtDNA) are one of the most important causes of hearing loss. Of these, the homoplasmic A1555G and C1494T mutations at the highly conserved decoding site of the 12S rRNA gene are well documented as being associated with either aminoglycoside-induced or nonsyndromic hearing loss in many families worldwide. Moreover, five mutations associated with nonsyndromic hearing loss have been identified in the tRNA(Ser(UCN)) gene: A7445G, 7472insC, T7505C, T7510C, and T7511C. Other mtDNA mutations associated with deafness are mainly located in tRNA and protein-coding genes. Failures in mitochondrial tRNA metabolism or protein synthesis were observed from cybrid cells harboring these primary mutations, thereby causing the mitochondrial dysfunctions responsible for deafness. This review article provides a detailed summary of mtDNA mutations that have been reported in deafness and further discusses the molecular mechanisms of these mtDNA mutations in deafness expression.

• Authors: Yu Ding, Jianhang Leng, Fan Fan, Bohou Xia, Pan Xu
• Journal: Biochemical genetics (Biochem Genet) Vol. 51 Issue 7-8 Pg. 588-602 (Aug 2013) ISSN: 1573-4927 [Electronic] United States
• PMID: 23605717 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)

Chemical References

• DNA, Mitochondrial
• RNA, Ribosomal
• RNA, ribosomal, 12S
• RNA, Transfer

Topics

• Base Sequence
• DNA, Mitochondrial (genetics)
• Gene Deletion
• Genome, Mitochondrial
• Hearing Loss (genetics)
• Humans
• Models, Genetic
• Molecular Sequence Data
• Mutation
• Nucleic Acid Conformation
• Phenotype
• Point Mutation
• RNA, Ribosomal (genetics)
• RNA, Transfer (genetics)