Deafness is a genetically dominant feature of the LMG2 family, which means that a child inherits a defective copy of the gene from his parents and experiences progressive hearing loss. The mutation of the deafness is located in the region of DFNA27 on chromosome 4. This area contains more than a dozen genes. However, the precise location of this mutation has been unknown.

Most of the previous studies ignored the fourth exon in the Rest gene,because this small exon was not edited into the Rest mRNA of most cells. The normal function of REST proteins is to shut down genes that are only active in a few cell types.

On June 28, a study published Defects in the Alternative Splicing-Dependent Regulation of REST Cause Deafness in Cell showed that exon 4 of mouse Rest was deleted, and ear hair cells died, resulting in a deaf mouse phenotype. The researchers found that many genes that should have been active were shut down before hair cells died. Thus, they reanalyzed the deafness mutations in the LMG2 family and found that the mutations were close to exon 4, altering the boundaries of exon 4, while the REST of hair cells was inactivated.

Integrating exon 4 into REST mRNA is equivalent to a switch that senses hair cells, which shuts down REST and opens up many gene expressions. Activation of these genes is important for hair cell survival and hearing.

Using an exon 4-deficient mouse model, the researchers found that REST inhibits gene expression primarily through a process called histone deacetylation. As a result, they used small molecule drugs that inhibited this process, down-regulating the effects of REST, and successfully restored the mice to partial hearing.

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