A new treatment approach has been developed for Usher syndrome, the most common form of combined congenital deaf-blindness in humans, which affects one in 6,000 of the population.
Researchers at Johannes Gutenberg University Mainz in Germany have formulated the therapy, after focusing on a mutation identified in a specific German family known to develop the most severe form of Usher syndrome.
This mutation of the USH1C gene leads to the generation of a "stop signal" in a DNA base, resulting in premature termination of protein synthesis and the formulation of the condition.
However, the experts were able to show that a small molecule known as PTC124 causes the signal in the mutated gene to be ignored, resulting in protein synthesis continuing and development of the disease being halted.
According to the National Institute on Deafness and Other Communication Disorders, approximately three to six per cent of all children who are deaf and another 3 to 6 percent of children who are hard-of-hearing have Usher syndrome.
by Emily Tait