Chuck DarwinMini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F
Usher Syndrome Type 1F is an inherited disease that causes profound #hearing #loss from birth and #impairs #vision from adolescence.
At Harvard Medical School and the Ohio State University, researchers have developed a “mini gene” approach that they believe could help to treat the disease. Their study, published in Nature Communications, focuses on protocadherin-15 (#PCDH15), a protein found in the inner ear receptor cells that, when mutated, gives rise to the unraveling of this syndrome.
Mini-PCDH15 gene therapy rescues hearing in a mouse model of Usher syndrome type 1F - Nature Communications
Mutations in PCDH15 cause deafness and blindness in Usher syndrome 1 F, but gene therapy is difficult because the PCDH15 sequence is too large for AAV vectors. Here, the authors engineered a miniPCDH15 that fits in AAV and rescues hearing in mouse Usher syndrome 1F models.