Navigation Links
Gene Linked With Aggressive 'Wet' Form Of AMD

Two recent articles in Science by researchers at Yale School of Medicine has reported about a gene variant that increases the risk of developing //the aggressive 'wet' form of age-related macular degeneration (AMD), the most common cause of blindness in people over age 50.

AMD causes light-sensitive cells in the retina to break down, resulting in progressive loss of central vision. Of the two forms of AMD, the 'dry' is more common than the 'wet' form. Wet macular degeneration can rapidly lead to blindness, while the dry AMD progresses more slowly.

Last year, Josephine Hoh, associate professor in the Departments of Epidemiology & Public Health and Ophthalmology at Yale and senior author on one of the two new studies, identified a gene for dry AMD and found that both wet and dry AMD are associated with a variant in the complement factor H (CFH) gene on chromosome 1.

Hoh now reports they have found a single nucleotide polymorphism (SNP)—a one-base change in the sequence—of the regulatory part of the HTRA1 gene on chromosome 10 that leads to greatly increased risk of developing the wet form of AMD.

According to Hoh, buildup of abnormal blood vessels in Caucasian patients is compounded by development of large waste deposits called drusen. Chinese patients, she said, develop little to no drusen and progress directly to wet AMD. This study demonstrates that these two major genes, CFH and HTRA1, in two different biological pathways, each affect the risk for a distinct component of the AMD phenotype: CFH influences the drusen of dry AMD, whereas HTRA1 influences blood vessel development, the hallmark of the wet disease type. When the two processes are combined, it leads to the composite characteristics that are seen in some cases of AMD.

Hoh, her collaborators in Hong Kong, and her colleagues at Yale including Michael Snyder and Colin Barnstable in the Departments of Molecular, Cellular and Developmental Biology and Molecu lar Biophysics and Biochemistry, and Ophthalmology, did trans-racial gene mapping by comparing genomes between precisely defined populations to find the incidence of SNP in a Chinese population—96 with AMD and 130 with normal vision.

"We found that patients with the HTRA1 SNP were 10 times more likely to have wet AMD than those without this gene variant," said Hoh. "While this is only preliminary work, it points to possible directions for future treatment of wet AMD."

Hoh also worked on a replication study led by Kang Zhang at the University of Utah School of Medicine that found a link between the same SNP and AMD. Zhang and his team studied 581 Caucasian patients with AMD and 309 with normal vision. These patients had wet AMD as well as a large amount of drusen.

To confirm the association, the Utah team also examined several donor eyes and measured the expression of the gene and the encoded protein. They found that the expressions were elevated in the eyes of patients who carry HTRA1.

"The marker we have identified is very much associated with AMD, but no one has ever pinpointed the clinical features of the gene. We need to conduct further analysis in order to understand the biological mechanisms," said Hoh.

Source-Eurekalert
SI
'"/>




Related medicine news :

1. Low Cholesterol Linked to Severe Depression and Violent Behavior in Men
2. Cough Syrup Ingredient Linked to Stroke
3. Irregular Periods Linked to Diabetes
4. Hormones Linked To Migraines
5. Triglycerides Linked To Stroke Risk
6. Smoking Linked To Low Infant Birth Weight
7. Nausea Linked To Anxiety And Depression
8. Painkiller Linked to Deaths
9. High Levels of Protein Linked to Brain Shrinkage
10. Snoring Linked To Headaches
11. Hormone Therapy Linked to Dementia
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:9/20/2017)... ... September 20, 2017 , ... Medicare doesn’t have the authority ... gouging for their prescription drugs, according to a new comparison of drug plans ... our behalf, there’s no consistency in drug pricing among drug plans,” states TSCL’s ...
(Date:9/20/2017)... ... ... “Finn Mouseson”: follows the exciting story of a mouse as the need for adventure ... journey that will show that friends are to be gathered but home is always ... Melody Gersonde-Mickelson, who has earned a bachelor’s degree in Fine Arts from the University ...
(Date:9/20/2017)... ... September 20, 2017 , ... “The Financial Favor of God; Second Edition”: a ... Second Edition” is the creation of published author, Brooks Rathell. , “We typically hear ... to you about the financial favor of God. Not only does it exist, but ...
(Date:9/19/2017)... NY (PRWEB) , ... September 19, 2017 , ... ... announced today the addition of strategic marketing leader, Denise Flannery, to its strategic ... Marketing, Brand and Management Consultant, Denise will work with clients across different industries ...
(Date:9/19/2017)... (PRWEB) , ... September 19, 2017 , ... ... organization devoted exclusively to funding innovative lymphoma research and serving the lymphoma community ... will return to Texas as a part of its national Swirl: A Wine ...
Breaking Medicine News(10 mins):
(Date:9/9/2017)... 9, 2017  Eli Lilly and Company (NYSE: ... endpoint data for lasmiditan, an investigational, oral, first-in-class molecule ... significant improvements compared to placebo in the Phase 3 ... the 18th Congress of the International Headache Society (IHC) ... data presented today demonstrate lasmiditan,s potential to reduce pain ...
(Date:9/7/2017)... Caris Life Sciences, a leading innovator ... of precision medicine, today announced results from two ... molecular profiling approach in guiding therapeutic strategies in ... (CGP+) with Caris Molecular Intelligence ® to ... level, leading to more therapeutic options and improved ...
(Date:9/7/2017)... , Sept. 7, 2017   BioLife Solutions , Inc. ... marketer of proprietary clinical grade cell and tissue hypothermic ... that Mike Rice , President and CEO, will be ... Rodman & Renshaw 19 th Annual Global ... time (12:25 p.m. Pacific time). The conference is being held ...
Breaking Medicine Technology: