HOME >> BIOLOGY >> NEWS
Gene mutation found for eye disease that mimics macular degeneration

ANN ARBOR, MI -- University of Michigan Kellogg Eye Center scientists have been studying a family whose members have an eye disease that looks like age-related macular degeneration (AMD), but that has a rarer pattern of inheritance that results in an exceptionally high incidence of the disease among family members in the study.

In the August issue of Investigative Ophthalmology & Visual Science (IOVS), Kellogg scientist Radha Ayyagari, Ph.D., and her collaborators from the U-M and other institutions identify the gene associated with this unusual macular disease. They report on the Tyr141Cys mutation in a gene called RDS.

According to Ayyagari, the marked similarity between AMD and the AMD-like disease will help researchers learn more about the molecular basis of AMD. The findings could have even greater significance because Ayyagari and her colleagues suspect that some individuals with AMD may also harbor the RDS mutation.

AMD is a progressive disease affecting the macula, the area of the retina responsible for central vision that enables us to drive, read, and identify faces. It affects about 1.65 million individuals in this country each year; the first symptoms tend to appear at age 60 or older.

Ayyagari's group discovered the mutation by studying members of five generations of a large family, known to researchers as SUNY901. The family has a high incidence of a macular disease that resembles AMD, begins at age 50 or older, and has both wet and dry forms, much like AMD.

But in contrast to AMD, it has an autosomal dominant mode of inheritance, which means that the disease can be passed to a child by either parent and that the child of an affected parent has about a 50 percent chance of inheriting the disease.

The family members who are affected by the disease may have symptoms with varying degrees of severity, but the condition frequently results in permanent loss of central vision. Co-author Shahrokh C. Khani, M.D
'"/>

Contact: Kara Gavin
kegavin@umich.edu
734-764-2220
University of Michigan Health System
4-Aug-2003


Page: 1 2 3

Related biology news :

1. Genetic mutations linked to the practice of burning coal in homes in China
2. Spontaneous mutation produces new MAO A/B knockout mouse
3. How an insidious mutation fools DNA replication
4. Using statistics to decipher secrets of natural mutation
5. Rare mutations can significantly increase risk factor for heart disease
6. Genetic mutation linked to more aggressive breast cancer found more often in African-Americans
7. LBP-1a gene mutation linked to disruption of normal fetal development
8. Genetic mutation found that is major contributor to type 1 diabetes
9. The mother lode of mutations
10. Gene mutation causes progressive changes to cell structure in children with Progeria
11. Single gene mutation muddying Parkinsons risk forecasts

Post Your Comments:
*Name:
*Comment:
*Email:


(Date:3/14/2016)... March 14, 2016 http://www.apimages.com ... --> - Renvoi : image disponible via ... --> --> DERMALOG, le ... de nouveaux lecteurs d,empreintes digitales pour l,enregistrement des ... sera utilisé pour produire des cartes d,identité aux ...
(Date:3/10/2016)... --  Unisys Corporation (NYSE: UIS ) today announced ... testing its biometric identity solution at the Otay Mesa border ... identify certain non-U.S. citizens leaving the country. ... determine the efficiency and accuracy of using biometric technologies in ... until May 2016. --> the United States ...
(Date:3/8/2016)... , March 8, 2016   Valencell , ... today announced it has secured $11M in Series ... Tech, a new venture fund being launched by ... participation from existing investors TDF Ventures and WSJ ... to continue its triple-digit growth and accelerate its ...
Breaking Biology News(10 mins):
(Date:5/3/2016)... ... May 03, 2016 , ... ... clinics and IVF laboratories. A contingency of reproductive endocrinologists, including Dr. George ... women experiencing infertility and to help them build families. , Ovation Fertility is ...
(Date:5/2/2016)... ... ... StarNet Communications Corp, ( http://www.starnet.com/ ) a leading publisher of remote Linux and ... its flagship X-Win32 PC X server. The new modules enable X-Win32 to safely ... encrypted SSH. , Traditionally, users of PC X servers deploy the XDMCP protocol to ...
(Date:4/29/2016)... ... April 29, 2016 , ... ... pain medicine, is excited to announce the launch of the Proove Health ... studies, volunteerism, and education to promote the use of personalized medicine for tackling ...
(Date:4/29/2016)... ... April 29, 2016 , ... ... to transform technology into a viable company, CereScan’s CEO, John Kelley, joined other ... a recognized leader and mentor in the Denver area business community, shared his ...
Breaking Biology Technology:
Cached News: