Navigation Links
deCODE discovers cause of major subtype of glaucoma
Date:8/13/2007

Reykjavik, Iceland, August 9, 2007 In a paper published today in the journal Science, scientists from deCODE genetics (Nasdaq:DCGN) and academic colleagues from the National University Hospital in Reykjavik and Uppsala University in Sweden report the discovery of two common single letter variations (SNPs) in the sequence of the human genome that appear to account for virtually all cases of a major subtype of glaucoma. The SNPs are located in the LOXL1 gene on chromosome 15, and confer respectively 26-fold and 8-fold increases in risk of exfoliation glaucoma compared to the low-risk versions of the same markers. Approximately 25% of those in the Icelandic and Swedish study cohorts were found to have two copies of the highest risk variant, putting them at approximately 100 times the likelihood of developing exfoliation glaucoma (XFG) as are individuals with the low risk version of the same SNP. The LOXL1 protein encoded by the gene is involved in the formation of elastin fibers which, when they accumulate in the eye, cause XFG.

The paper, entitled Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma, is published today in the online edition of Science, and will appear in an upcoming print edition of the journal.

This discovery is remarkable and important because the genetics has led us directly to what appears to be the sole cause of a devastating common disease. The risk conferred by these variants is such that it accounts for virtually all cases of exfoliation glaucoma, meaning that if we can neutralize the impact of these variants we might eliminate the disease. The LOXL1 protein made by this gene appears to play a role in the accumulation of microfibullar deposits that causes XFG, providing a promising mechanism to target for developing therapy. We plan to conduct additional studies to examine how we can take advantage of this finding to begin drug discovery, said Kari Stefansson, CEO of deCODE.

The deCODE team discovered the variants by first analyzing more than 300,000 SNPs in Icelandic and Swedish glaucoma patients and control subjects, utilizing the Illumina Hap300 SNP chip. One SNP was strongly linked to exfoliation syndrome, in which fibrous deposits begin to accumulate in the front of the eye but have not yet begun to impair vision. Analysis of additional SNPs in public databases and which were not included on the chip led to the identification of the two risk variants allele G of rs1048661 and allele G of rs3825942 strongly linked to XFG in Icelandic and Swedish case-control cohorts. A combined total of some 16,000 patients and control subjects participated in the study.

Glaucoma is one of the most common causes of blindness worldwide. There are various types of glaucoma, all of which lead to damage in the optic nerve and progressive loss of vision. Exfoliation glaucoma is caused by the buildup of fibrous deposits on the surfaces on the front of the eye. Between 10-20% of people over the age of 60 are believed to have some degree of exfoliation syndrome, and perhaps more than half of these individuals will go on to develop exfoliation glaucoma. The progression of glaucoma can be slowed using various medications that promote the drainage of fluids from the eye and reduce pressure on the optic nerve. However, exfoliation glaucoma is often resistant to drug treatment. Little has been understood to date about the pathophysiology of the disease and there are no treatments targeting the underlying causes of the condition.


'/>"/>

Contact: Berglind R. Olafsdottir
bro@decode.com
354-664-2393
deCODE genetics
Source:Eurekalert

Related biology news :

1. Researchers show how brain decodes complex smells
2. Plant protection from cold decoded
3. UCSD team discovers specialized, rare heart stem cells in newborns
4. University of Nevada, Reno research team discovers hormone that causes malaria mosquito to urinate
5. Biologist Discovers What May Be World’s ‘Pickiest?Mates
6. MIT chemist discovers secret behind natures medicines
7. Mayo Clinic collaboration discovers protein amplifies DNA injury signals
8. Expedition discovers marine treasures
9. Team discovers possible universal strategy to combat addiction
10. Nobelist discovers antidepressant protein in mouse brain
11. Joslin discovers signs of residual islet cell function in people with long-term type 1 diabetes
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/5/2017)... -- The Allen Institute for Cell Science today announces the ... and dynamic digital window into the human cell. The ... of deep learning to create predictive models of cell ... growing suite of powerful tools. The Allen Cell Explorer ... available resources created and shared by the Allen Institute ...
(Date:4/3/2017)... WASHINGTON , April 3, 2017 /PRNewswire-USNewswire/ ... single-cell precision engineering platform, detected a statistically ... cell product prior to treatment and objective ... highlight the potential to predict whether cancer ... prior to treatment, as well as to ...
(Date:3/29/2017)... March 29, 2017  higi, the health IT company ... North America , today announced a Series ... acquisition of EveryMove. The new investment and acquisition accelerates ... tools to transform population health activities through the collection ... higi collects and secures data today on ...
Breaking Biology News(10 mins):
(Date:4/21/2017)... ... ... The AMA is happy to announce that $48,000 in scholarships will be ... are created through funds donated by model aviation organizations and individuals, AMA members, and ... Scholarship Committee, which is made up of model aviation pilots and enthusiasts. The committee ...
(Date:4/20/2017)... ... April 20, 2017 , ... Assured Enterprises, Inc. ... offer a full spectrum of digital security goods and services. The strategic partners ... the ground-breaking proactive cybersecurity services and products through Assured Enterprises. The two companies ...
(Date:4/20/2017)... Hong Kong (PRWEB) , ... April 20, 2017 , ... ... for Global Sales. , With over 20 years of experience in the learning technologies ... LEO, a sister company within Learning Technologies Group plc (LTG). At LEO, Mastin served ...
(Date:4/20/2017)... and Bethesda, MD (PRWEB) , ... April 20, ... ... Innovation announce the formation of a unique intellectual property (IP) sharing and commercialization ... of their most promising inventions. A main component of this effort is bringing ...
Breaking Biology Technology: