Navigation Links
Researchers ID genetic mutation associated with high risk of age-related macular degeneration
Date:10/24/2011

Boston, MA Age- related macular degeneration (AMD) is the leading cause of severe visual loss among the elderly. Researchers had previously identified several relatively common genetic variants which together predict a person's increased risk for AMD, but a significant number of persons without the disease also have these variants. Now, for the first time, investigators have been able to clearly show a specific rare mutation called CFH R1210C that predicts a very high risk of disease and is extremely uncommon among individuals who do not have the disease. Although it is a rare variant, accounting for about 1% of the total cases, it is highly related to familial disease and earlier age of onset. This research is published online and in an upcoming print edition of Nature Genetics. The paper is a collaborative effort between investigators from Tufts Medical Center, Tufts University School of Medicine and Brigham and Women's Hospital.

"Our paper shows that there is a genetic variant that confers high risk of the development of AMD; this finding not only clearly links CFH gene dysfunction to disease, but also might help to identify people who need to be screened more closely," said first author, Soumya Raychaudhuri, MD, PhD, a researcher in the Divisions of Genetics and Rheumatology at Brigham and Women's Hospital and an Assistant Professor of Medicine at the Harvard Medical School.

Prior to this publication, it was known that genetic variation within the CFH gene influenced risk of AMD in individuals. In this study, researchers conducted sequencing and genotyping of CFH in 2,423 AMD cases and 1,122 controls in the laboratory of senior author Johanna M. Seddon, MD, ScM, Professor of Ophthalmology at Tufts University School of Medicine and Director of the Ophthalmic Epidemiology and Genetics Service at Tufts Medical Center. They identified a rare, high-risk mutation resulting in an arginine to cysteine substitution in the CFH protein. This mutation is associated with loss of function of the CFH protein and its discovery suggests that loss of CFH function can drive AMD risk. It was associated with advanced AMD with visual loss and many of the patients also had numerous drusen, which are the early hallmarks of AMD.

"The discovery of this rare but penetrant variant strongly associated with disease also points the way to developing new and effective treatments for high risk individuals," said Seddon.

Collaborators in this research included investigators from Massachusetts General Hospital and Johns Hopkins University.


'/>"/>

Contact: Lori Shanks
ljshanks@partners.org
617-534-1604
Brigham and Women's Hospital
Source:Eurekalert

Related medicine news :

1. Researchers map all the fragile sites of the yeast Saccharomyces cerevisiaes genome
2. UH Case Medical Center researchers publish promising findings for advanced cervical cancer
3. Researchers discover new way to kill pediatric brain tumors
4. Researchers Who Discovered First Genes for Stuttering will Present Findings to the National Stuttering Association
5. Researchers create drug to keep tumor growth switched off
6. Urine protein test might help diagnose kidney damage from lupus, UT Southwestern researchers find
7. GUMC researchers say flower power may reduce resistance to breast cancer drug tamoxifen
8. Clemson researchers develop hands-free texting application
9. Researchers find biomarkers in saliva for detection of early-stage pancreatic cancer
10. Researchers chart genomic map spanning over 2 dozen cancers
11. Researchers discover second protective role for tumor-suppressor
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:6/27/2016)... ... 2016 , ... TopConsumerReviews.com recently awarded their highest five-star rating to Best Buy ... in the United States and Canada wear eyeglasses. Once considered to be a purely ... make a fashion statement. Even celebrities use glasses as a way of creating an ...
(Date:6/26/2016)... ... ... Kasmer, a legally blind and certified personal trainer is helping to develop a weight loss ... plans to fix the two major problems leading the fitness industry today:, ... , They don’t eliminate all the reasons people quit their exercise program ...
(Date:6/25/2016)... , ... June 25, 2016 , ... "With 30 hand-drawn ... specific project," said Christina Austin - CEO of Pixel Film Studios. , ProHand ... all within Final Cut Pro X . Simply select a ProHand generator and ...
(Date:6/25/2016)... , ... June 25, 2016 , ... Conventional wisdom preaches ... success. In terms of the latter, setting the bar too high can result in ... than just slow progress toward their goal. , Research from PsychTests.com ...
(Date:6/24/2016)... Dallas, Texas (PRWEB) , ... June 24, 2016 ... ... 12th International Conference and Scientific Sessions in Dallas that it will receive two ... Announcement of the grants came as PHA marked its 25th anniversary by recognizing ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... Dublin ... of the " Global Markets for Spectroscopy Equipment" ... This report focuses on the global ... including its applications in various applications. The report deals ... three main industries: pharmaceutical and biotechnology, food and beverage, ...
(Date:6/24/2016)... -- The Academy of Managed Care Pharmacy (AMCP) today ... allow biopharmaceutical companies to more easily share health care ... coverage decisions, a move that addresses the growing need ... The recommendations address restrictions in the sharing of product ... a prohibition that hinders decision makers from accessing HCEI ...
(Date:6/24/2016)... SAN CLEMENTE, Calif. , June 24, 2016  American ... function testing company, is now able to perform sophisticated lung assessments ... ndd Medical Technologies , Inc. Patients are no ...  Thanks to ndd,s EasyOne PRO ® , ARL patients like Jeanne ... needed testing done in the comfort of her own home. ...
Breaking Medicine Technology: