Identifying novel gene mutations related to age-related hearing loss
Age-related hearing loss
Researchers in various fields from universities in England, Scotland, and France have identified a number of new pathways involved in age-related hearing loss through studies in the mouse model.
The genetic basis of age-related conditions, including hearing loss, is a broad area of research that is receiving more and more attention. It is hoped that identifying mutations may help to diagnose problems early and to develop targeted therapies.
In this context, the team of researchers carried out a large-scale genetic screen in the mouse model using a phenotype-driven discovery platform to identify mutations resulting in age-related disease. They were interested in both late-onset and progressive disease mutations affecting a range of physiological systems.
The research study’s results, published in Nature Communications in mid-August, showed 105 distinct mutant lines from 157 analyzed mouse pedigrees, including 27 late-onset phenotypes. On the basis of whole-genome sequencing, the scientists identified the underlying genes for 44 of the mutant lines, including 12 late-onset phenotypes. The authors hope that these novel mutants will serve as robust preclinical models of disease.
Lead researcher on the study, Dr Paul Potter from the MRC Harwell Institute, UK commented on the results to Medical Research Council News, saying: “Our study is an important springboard for a better understanding of which genes in humans are involved in age-related conditions, and how changes in those genes influence this. This is a first and vital step in developing new therapies.”
Source: Potter PK., et al. Novel gene function revealed by mouse mutagenesis screens for models of age-related disease. Nature Communications. 2016 Aug 18;7:12444; Medical Research Council.
