Deafness is an inability of a person to respond to sound stimuli in a range of 20 to 20 KHz. There are different forms of hearing inability. They might be acquired or in some cases hereditary. A rare form of progressive deafness in males is the Post lingual nonsyndromic hearing impairment (DFN2). USA, Great Britain, and China holds the boys with this disease. They begin hearing loss between the ages of 5 and 15 and still continue to experience hearing loss over the course of their lives. Recent discovery shows that the PRPS1 gene plays an absolute necessary role in the development and maintenance of the middle ear. PRPS1 is an interesting example of a human disease gene in which gain of function or loss of function mutations cause many different and distinct hereditary disorders/diseases. PRPS1 is one of the greatest discoveries that PRPS1 is associated with DFN2. Its role in the development of the middle ear makes PRPS1 even more important. This discovery offers exciting therapeutic implications, not only to develop a targeted treatment for hearing loss in boys with this disorder, it may also lead a way to the treatment of other types of deafness, including some kinds of acquired hearing loss.
The post PRPS1 Helps to Aid Deafness appeared first on Science Blog.