Specific protein mutations affecting the cochlea may contribute to early hearing loss


Hearing loss
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A recent study carried out by researchers working at the University of Pennsylvania’s Perelman School of Medicine and at the Children’s Hospital of Philadelphia (USA) showed that a master-switch protein, epithelial splicing regulatory protein 1 (ESRP1), may be associated with non-syndromic sensorineural hearing loss (SNHL).

The researchers, D. Epstein, Dr R. Carstens and Dr I. Krantz studied a family in which two of the six children used cochlear implants for hearing loss. The team used gene sequencing to discover that ESRP1 mutations were associated with this hearing loss. They were also able to restore RNA splicing switches when the mutations were corrected by gene editing, reports Patient Daily, citing a release from Penn Medicine.

“In general, what connects most of the unexplained hearing loss cases is that protein building in the cochlea during development goes awry,” the release indicated. According to D. Epstein, “We were excited to see these results as they provided clear evidence that ESRP1 mutations were responsible for the splicing defects in the affected children”. The results add to the growing body of evidence concerning the genetics behind hearing loss.

Dr Krantz added that “this research is exciting as it implicates this critical molecular pathway [in] a developmental diagnosis in humans for the first time, and helps shed light on a novel contributor to hearing loss that may lead to new approaches for therapeutics down the road.”

Source: Patient Daily, Penn Medicine