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)... 5, 2017  The Allen Institute for Cell Science ... a one-of-a-kind portal and dynamic digital window into the ... the first application of deep learning to create predictive ... lines and a growing suite of powerful tools. The ... and future publicly available resources created and shared by ...
(Date:3/30/2017)... March 30, 2017  On April 6-7, 2017, Sequencing.com ... Genome hackathon at Microsoft,s headquarters in ... will focus on developing health and wellness apps that ... Hack the Genome is the first hackathon for ... world,s largest companies in the genomics, tech and health ...
(Date:3/27/2017)... 27, 2017  Catholic Health Services (CHS) has ... Society (HIMSS) Analytics for achieving Stage 6 on ... . In addition, CHS previously earned a place ... an electronic medical record (EMR). "HIMSS ... of EMR usage in an outpatient setting.  This ...
Breaking Biology News(10 mins):
(Date:7/18/2017)... ... 18, 2017 , ... Allotrope Foundation won the 2017 in ... the Allotrope Framework for commercial use. , The Bio-IT World Best Practices Awards ... the critical role of information technology in modern biomedical research, but also to ...
(Date:7/17/2017)... ... , ... The Academy of Model Aeronautics (AMA) will host Aviation Adventure Day ... place from 9 a.m. to 2 p.m. at the International Aeromodeling Center in Muncie, ... Adventure Day will be packed with entertaining activities for the entire family. Attendees will ...
(Date:7/17/2017)... ... July 17, 2017 , ... Neurodevelopmental ... wide range of overlapping clinical features. The advancement of targeted next-generation sequencing (NGS) ... NDD research and testing. , However, designing a custom panel for disease ...
(Date:7/17/2017)... ... July 17, 2017 , ... DuPont Pioneer today ... website (openinnovation.pioneer.com) dedicated to connecting third-party innovators with DuPont Pioneer scientists ... breeding, enabling technologies, biologicals and digital solutions. , “DuPont Pioneer is building on ...
Breaking Biology Technology:
Cached News: