Deafness Research UK has awarded a new grant to Dr M Albert Basson and Dr Yuichiro Yaguchi of the Department of Crainiofacial Development at King's College London, to study how a gene called Sprouty2 affects the inner ear and deafness.
When people are missing small pieces of DNA, this can lead to syndromal conditions involving a range of symptoms. The most common of these is velocardiofacial syndrome (VCFS), which affects one in every 4,000 people. Most of the patients have some form of hearing loss and about 10% have defects in the structure of their inner ears. However, while for some people the condition is severe, for others it is not, and it is not yet known what causes the differences between individuals.
Most of what we know about VCFS comes from studies of mouse models of the disease. The most important gene within the region that's missing from patients is called TBX1, but the King's College team have recently identified another group of genes, named Sprouty, that may enhance defects in the inner ear. Mice with a mutation in the Sprouty2 gene alone are deaf but have normal inner ears. This study aims to find out whether the condition is more severe in mice with mutations in both TBX1 and Sprouty2 (or a related gene called Sprouty1).
"Our previous studies have shown that mice without the Sprouty genes have abnormally shaped cochleas and semi-circular canals. If we can show that Sprouty2 interacts with TBX1 to affect inner ear shape, we will have strong evidence that Sprouty genes may be able to modify inner ear development in patients with VCFS" said Dr Basson.
The UK research team will collaborate with scientists at the Albert Einstein College of Medicine in New York and the Medical College of Wisconsin, USA.