The cochlea is part of the inner ear. Cilia cells, which look like tiny fibers of hair, help turn sound waves into electrical impulses that travel to the brain via the auditory nerve. Although further study is needed, the myosin VIIa protein appears to aid in the transport of important substances within these cell types. Mutations in the myosin VIIa gene produce an abnormal protein that cannot perform its transport function. As a result, both the cilia and photoreceptor cells degenerate causing hearing loss and blindness.
Current research is focused on understanding what the myosin VIIa protein transports.
With a more precise understanding of the gene's normal function, scientists can develop therapies that overcome the dysfunction resulting from a disease-causing genetic mutation. This example highlights the critical importance of genetic research in finding treatments and cures for all retinal degenerative diseases. However, further progress cannot begin until a disease causing gene has been identified. It is extremely fortunate that researchers have now found the gene for the most common form of Usher syndrome. The Foundation continues to fund the necessary research studies to find the remaining genes that cause Usher syndrome.