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:8/16/2017)... California (PRWEB) , ... August 16, 2017 , ... An August 3rd article ... was the subject of a report in JAMA (the Journal of the American Medical Association). ... 50 were able to achieve BMIs under 30, when compared to patients with lower BMIs. ...
(Date:8/16/2017)... ... 16, 2017 , ... For the second year, the Brain ... educate the public on the impact of concussions. Brooke Mills, student and founder ... Awareness Day. , Brooke is working diligently is to raise awareness of concussion ...
(Date:8/16/2017)... Island, NY (PRWEB) , ... August 16, 2017 , ... ... with IV starts and blood draws. By broadly deploying AccuVein devices, Maury Regional Medical ... takes much of the guesswork out of a needle stick and more importantly, helps ...
(Date:8/16/2017)... YORK, NY (PRWEB) , ... August 16, 2017 , ... ... for better treatments and ultimately, a cure. , The grants are awarded through ... comprised of scientists with a wide array of backgrounds and expertise in all areas ...
(Date:8/16/2017)... ... August 16, 2017 , ... ... eBook, 9781498499620    ) shares that during the time of a cancer diagnosis, surgery and ... God's love, and all the many ways God shows love to those who ...
Breaking Medicine News(10 mins):
(Date:7/31/2017)... Tenn. , July 31, 2017 Three Tru-D SmartUVC ... Yongsan, South Korea . Tru-D, short for "Total Room ... and operating rooms after an environmental services (ES) professional cleans the area ... ... "Although the ...
(Date:7/28/2017)... 2017 Hill-Rom Holdings, Inc. ("Hill-Rom") (NYSE: HRC), ... ended June 30, 2017, and updated its financial outlook ... For the fiscal third quarter, Hill-Rom reported earnings ... diluted share in the prior-year period. These results reflect ... diluted share primarily related to the non-cash write-down of ...
(Date:7/27/2017)... WARSAW, Ind., July 27, 2017  Zimmer Biomet Holdings, ... the quarter ended June 30, 2017.  The Company reported ... of 1.1% over the prior year period, and an ... approximately 240 basis points of contribution from the LDR ... from the second quarter of 2016, or 0.3% on ...
Breaking Medicine Technology: