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:
(Date:10/17/2014)... Researchers from the University of Copenhagen have shown for ... the lungs of Cystic fibrosis patients, giving them the ... growth in chronic infections. , The study also discovered ... fibrosis (CF) patients was halted or slowed down by ... consumed all the oxygen and helped "suffocate" the bacteria, ...
(Date:10/16/2014)... the bowel lining develops and, in the process, suggested ... The researchers produced evidence that stem cells are responsible ... feature of the bowel lining, and believe these stem ... finding as scientists are still divided on the stem ... Wee Tan and Professor Tony Burgess from the Walter ...
(Date:10/15/2014)... Oct. 15, 2014 Sandata Technologies, LLC, ... and community-based care, today announced it released a ... Santrax® Electronic Visit Verification™ Solution (EVV™)  for Quality ... home health company founded in 1996 and has ... The study details the challenges ...
Breaking Biology News(10 mins):Scientists opens black box on bacterial growth in cystic fibrosis lung infection 2Cryptic clues drive new theory of bowel cancer development 2Sandata Announces Case Study with Quality Care Services, Inc. 2
(Date:10/20/2014)... BOSTON , Oct. 20, 2014 ... commercialization company tackling big healthcare problems, announced today ... investment round, with participation from Invesco Perpetual, a ... be used to drive PureTech,s existing pipeline forward ... technologies. "PureTech has the scientific creativity to really ...
(Date:10/20/2014)... Local veterinary surgeon, Dr. Tim McCarthy is seeking ... stem cells for dogs with osteoarthritis. Dr. McCarthy has ... clinical stem cell therapy for 7 years. The ultimate ... single injection of donor stem cells into one or ... inflammation in the treated joints. , Candidates for ...
(Date:10/19/2014)... CAMBRIDGE, Mass. , Oct. 19, 2014 NextCODE ... of the whole genome in real time, today announced the ... the NextCODE Exchange , at the American Society of ... . To learn more, sign up and apply for ... on its unique features and benefits can be viewed ...
(Date:10/19/2014)... The Asia-Pacific Speech Analytics market report defines and ... and forecast of revenue. This market is estimated to ... by 2019, at a Compound Annual Growth Rate (CAGR) ... the TOC of the Asia-Pacific Speech Analytics market report ... It also provides a glimpse of the segmentation in ...
Breaking Biology Technology:PureTech Announces Expansion with Oversubscribed $55M Funding Round 2PureTech Announces Expansion with Oversubscribed $55M Funding Round 3PureTech Announces Expansion with Oversubscribed $55M Funding Round 4PureTech Announces Expansion with Oversubscribed $55M Funding Round 5PureTech Announces Expansion with Oversubscribed $55M Funding Round 6Cascade Veterinary Referral Center Seeks Candidates for an Investigational Study of Stem Cells for Dogs with Arthritis 2The NextCODE Exchange: The first global, real-time system for sharing full-resolution genomic data 2The NextCODE Exchange: The first global, real-time system for sharing full-resolution genomic data 3The Asia-Pacific Speech Analytics market is estimated to reach $208 million by 2019 - New Report by MicroMarket Monitor 2The Asia-Pacific Speech Analytics market is estimated to reach $208 million by 2019 - New Report by MicroMarket Monitor 3The Asia-Pacific Speech Analytics market is estimated to reach $208 million by 2019 - New Report by MicroMarket Monitor 4
Cached News: