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12/30/2009 8:45:13 PM
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davatar
Posts 5
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A gene associated with a rare form of progressive deafness in males has been identified by an international team of researchers funded by the National Institute on Deafness and Other Communication Disorders. The gene, PRPS1, appears to be crucial in inner ear development and maintenance. The findings are published in the Dec. 17 early online issue of the American Journal of Human Genetics.
"PRPS1 is an interesting example of a human disease gene in which gain of function or loss of function mutations cause several different and distinct hereditary disorders," says Dr. Liu. "Our findings emphasize the body's need for tight regulation of PRPP synthetase 1 since a drop in activity can lead to deafness." Other mutations in the PRPS1 gene have been linked to neurodegenerative disorders such as Arts syndrome and a form of Charcot-Marie Tooth disease, both of which feature deafness in the constellation of symptoms.
Knowing that a reduction in the amount of PRPP synthetase 1 is what causes deafness in DFN2, Liu and his colleagues are now exploring potential enzyme replacement therapies to either restore hearing or prevent further hearing loss in boys with DFN2. They believe that since the PRPS1 mutations can be used as a genetic marker for DFN2, in the future at-risk boys could be tested at birth and immediately put on enzyme replacement therapy to reduce or prevent the hearing loss that would ordinarily come later in life.
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1/19/2010 7:53:48 PM
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shiela
Posts 104
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Interesting! and its a good prevention I think, testing newly born babies if there are any sign of hearing defects , and can prevent any further damage by treating it earlier in life.
edited by shiela on 2/19/2010
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2/17/2010 9:24:25 AM
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takatenamano
Posts 34
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If its a gene that causes hearing impairment, then its another job for geneticists to solve this problem by altering it.
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2/19/2010 1:10:47 AM
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shiela
Posts 104
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takatenamano wrote:
If its a gene that causes hearing impairment, then its another job for geneticists to solve this problem by altering it.
Hi there, do you really think that genes can be treated or altered? I am not really familiar with this, can you give us the site where we can read further? I am interested on this. Thanks in advance.
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