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:6/28/2017)... ... June 28, 2017 , ... Continually at the forefront of ... Drops™ have received the Non-GMO Project Verified seal. All five flavors of the ... only third-party verification for non-GMO foods and products in North America. , Available ...
(Date:6/28/2017)... VA (PRWEB) , ... June 28, 2017 , ... Guide ...      , No matter on which side of the Atlantic devicemakers do ... device regulations they have to follow. , In addition to the full text of ...
(Date:6/28/2017)... ... , ... Anyone with a remote control has seen the never-ending twists on the house flipping ... get rich in no time. But what about the buyers of the flipper's flip. ... of a flipped house. An email recently sent to Gary Case said, “Just closed ...
(Date:6/28/2017)... ... ... David B. Sosin, a founding partner at the law firm Sosin, Arnold & ... for the Illinois State Bar Association , in accordance with the organization’s rules of ... following a state-wide election and served in that capacity for the past year prior to ...
(Date:6/28/2017)... ... , ... American Farmer proudly announces the participation of Pure Line Seeds, Inc ... to broadcast fourth quarter 2017. American Farmer airs Tuesdays at 8:30aET on RFD-TV. , ... seed. As demand grew, the small company located in Moscow, Idaho extended its sales ...
Breaking Medicine News(10 mins):
(Date:6/8/2017)... , June 8, 2017  Less than a month ... more than 200,000 companies, including hospital networks, in over ... as one of the largest online extortion attempts ever ... healthcare market, it is imperative that providers understand where ... data from this — and many other very real ...
(Date:6/7/2017)... Md. , June 7, 2017  Novavax, Inc., (Nasdaq: ... second of two Phase 2 trials of its RSV F ... of child bearing age have been published in the journal ... publication have been shared in prior scientific conferences). The Company ... in April 2014. Novavax is developing the RSV F Vaccine ...
(Date:6/3/2017)... June 3, 2017  Eli Lilly and Company ... results from the Phase 3 MONARCH 2 study ... 6 inhibitor, in combination with fulvestrant, significantly improved ... alone in women with hormone-receptor-positive (HR+), human epidermal ... who have relapsed or progressed after endocrine therapy ...
Breaking Medicine Technology: