The role of mitochondrial DNA mutations in hearing loss.

Abstract excerpt

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...

Topics

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