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:4/5/2017)... KEY FINDINGS The global market ... CAGR of 25.76% during the forecast period of 2017-2025. ... for the growth of the stem cell market. ... MARKET INSIGHTS The global stem cell market is segmented ... The stem cell market of the product is segmented ...
(Date:3/30/2017)... The research team of The Hong Kong ... identification by adopting ground breaking 3D fingerprint minutiae recovery and matching ... and accuracy for use in identification, crime investigation, immigration control, security ... ... A research team led by ...
(Date:3/27/2017)... , March 27, 2017  Catholic Health Services ... Management Systems Society (HIMSS) Analytics for achieving Stage ... Model sm . In addition, CHS previously earned ... hospitals using an electronic medical record (EMR). ... high level of EMR usage in an outpatient ...
Breaking Biology News(10 mins):
(Date:10/12/2017)... ... October 12, 2017 , ... The Blavatnik ... Winners and six Finalists of the 2017 Blavatnik Regional Awards for Young Scientists. ... Foundation and administered by the New York Academy of Sciences to honor the ...
(Date:10/12/2017)... ... October 12, 2017 , ... ... the first-ever genomics analysis platform specifically designed for life science researchers to ... of pioneering researcher Rosalind Franklin, who made a major contribution to the ...
(Date:10/11/2017)... ... 2017 , ... Proscia Inc ., a data solutions ... “Pathology is going digital. Is your lab ready?” with Dr. Nicolas Cacciabeve, Managing ... how Proscia improves lab economics and realizes an increase in diagnostic confidence.* ...
(Date:10/11/2017)... Bay, Florida (PRWEB) , ... October 11, 2017 ... ... and Drug Administration (FDA) has granted orphan drug designation to SBT-100, its novel ... (sdAb) for the treatment of osteosarcoma. SBT-100 is able to cross the cell ...
Breaking Biology Technology:
Cached News: