Variant of Usher Syndrome Gene

January 18, 2012 in Hearing Loss & Deafness, Research, Uncategorized
Variant of Usher Syndrome Gene Preserves Vision and BalanceFrom National Institute on Deafness and Other Communications Disorders, 1/9/12

Usher syndrome, an inherited, recessive disorder that causes deafness and blindness as well as balance problems, can result from a mutant copy of any one of several different genes. But surprisingly, some mutations of the same genes that cause Usher syndrome can cause hearing loss alone, without any accompanying blindness or balance problems.

Researchers from the National Institute on Deafness and Other Communication Disorders and the National Eye Institute have now found that an alteration of an Usher gene that causes only deafness can preserve sight and balance when in combination with another alteration of the same gene that causes Usher syndrome, or deaf-blindness. This research has important implications for genetic counselors and may open new prospects for future therapies for vision loss.

“A person with a recessive disorder inherits two mutant copies of a gene, one from each parent,” said Thomas B. Friedman, Ph.D., head of the National Institute on Deafness and Other Communication Disorders (NIDCD) Laboratory of Molecular Genetics. “We wanted to find out, if a person inherits a deaf-blindness mutation of an Usher gene from one parent and a deafness-only mutation of that same Usher gene from the other parent, will vision be preserved or lost?”

Dr. Friedman, Julie M. Schultz, Ph.D., and a team of researchers have found that an alteration of an Usher gene that causes only deafness can preserve sight and balance when in combination with another alteration of the same gene that causes Usher syndrome, or deaf-blindness.This has important implications for genetic counselors and may open new prospects for future therapies for vision loss. Their study appears in the November 2011 issue of Journal of Medical Genetics. Other collaborators at NIH are Carmen Brewer, Ph.D., in the Otolaryngology Branch of the NIDCD, and Wadih Zein, M.D., in the National Eye Institute (NEI).

For the full article: http://www.nidcd.nih.gov/news/releases/12/Pages/01062012.aspx?nav=update