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Mitochondrial mutation associated with hearing loss
Genome Biology volume 2, Article number: spotlight-20010221-01 (2001)
The identification of alleles associated with complex hearing defects, such as presbyacusis (age-related hearing loss, AHL), presents a formidable challenge to geneticists. In the February Nature Genetics Johnson et al. describe their use of elegant mouse breeding experiments to identify the first example of a mitochondrial DNA (mtDNA) mutation that acts as a modifier of a nuclear AHL locus (Nat Genet 2001, 27:191-194). They performed a series of reciprocal backcrosses between three hearing-impaired inbred strains and a wild-type strain. Johnson et al. identified an mtDNA locus in one of these strains, the A/J strain, which affects hearing loss when mice are homozygous for the nuclear Ahllocus on mouse chromosome 10. Analysis of the A/J mtDNA genome revealed a single adenine nucleotide insertion in the tRNA-Arg gene. This unique example of nuclear-mitochondrial interaction will shed light on our understanding of human hearing impairmentconditions.
Nature Genetics, [http://genetics.nature.com]
Assessment of hearing in 80 inbred strains of mice by ABR threshold analyses.
A major gene affecting age-related hearing loss is common to at least ten inbred strains of mice.
Mus musculus mitochondrion, complete genome , [http://www.ncbi.nlm.nih.gov/cgi-bin/Entrez/framik?db=Genome&gi=10418]
Mitochondrial deafness mutations reviewed.
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Weitzman, J.B. Mitochondrial mutation associated with hearing loss. Genome Biol 2, spotlight-20010221-01 (2001) doi:10.1186/gb-spotlight-20010221-01
- Hearing Loss
- Inbred Strain
- Adenine Nucleotide
- Mouse Chromosome
- Formidable Challenge