Navigation Links
Scientists Discover Rare Vascular Disease
Date:2/2/2011

WEDNESDAY, Feb. 2 (HealthDay News) -- Researchers report that DNA analysis has led to the identification of a new and extremely rare vascular disease, along with its genetic cause.

As described in the Feb. 3 issue of the New England Journal of Medicine, the debilitating, painful and progressive disease is defined by the calcification of arteries in both the hands and feet of patients, and in the vascular network below the waist. Arteries of the heart remain unaffected.

Labeling it "ACDC," the U.S. National Institutes of Health (NIH) research team has linked the disease's tell-tale calcium build-up to a deficiency in a protein called CD73. And while the disorder bears some symptoms in common with rheumatoid arthritis (such as leg and joint pain), the study authors stress that it is a wholly new disease.

"This is the first novel disease discovery identified through the collaborative and interdisciplinary approach employed by clinical researchers in the NIH Undiagnosed Diseases Program," NIH director Dr. Francis S. Collins said in an NIH news release. "This disorder previously baffled the medical field and evaded diagnosis when conventional methods were used."

To date, ACDC has been diagnosed in exactly nine living patients from three unrelated families, among whom the disorder has been linked to a mutation in the so-called "NT5E" gene. Five of the patients are siblings from a single family, and all five bore the NT5E mutation.

Over the past 100 years, seven additional cases bearing similarities to the nine cases currently cited have been reported, but none of those led to a clear diagnosis of the newly identified condition.

The nine patients in the current study sought care for pain and cramping in their calves, thighs, buttocks and feet. Calcium build-up in arterial walls was subsequently uncovered.

Surgery to redirect blood flow to different arterial passages was conducted in one case, along with amputation of the foot.

The researchers expressed hope that, having pinpointed the genetic roots of the disease, they can now develop better treatments for such patients.

More information

For the more information on ACDC, visit the U.S. National Human Genome Research Institute.

-- Alan Mozes

SOURCE: U.S. National Institutes of Health, news release, Feb. 2, 2011


'/>"/>
Copyright©2010 ScoutNews,LLC.
All rights reserved  

Related medicine news :

1. Scientists ID Genetic Clues to Parkinsons
2. Southampton scientists begin patient trials of new leukemia cancer vaccine
3. Scientists find key protein that suppresses prostate cancer growth in the laboratory
4. Victor Chang scientists unlock the gates on sudden cardiac death
5. Johns Hopkins scientists crack genetic code for form of pancreatic cancer
6. Scientists find industrial pollutants in Eastern Lake Erie carp
7. Scripps Research scientists find measles natural nemesis
8. Scientists Map Key Structure HIV Uses to Infect Cells
9. MIT scientists discover cancer-fighting role for cells
10. Cancer scientists discover genetic diversity in leukemic propagating cells
11. Critique 029: What should we advise about alcohol consumption? A debate amongst scientists
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Scientists Discover Rare Vascular Disease
(Date:10/13/2017)... ... October 13, 2017 , ... Ellevate Network, the leading network for professional ... action towards gender equality at their inaugural Summit in New York City in June. ... a social audience of over 3 million. To watch the Mobilize Women video, ...
(Date:10/13/2017)... ... 13, 2017 , ... Coveros, a leader in agile coaching ... contract by the Center for Medicare and Medicaid Services (CMS). The Enterprise Agile ... of Agile methodologies in a consistent and high value manner across CMS programs. ...
(Date:10/12/2017)... , ... October 12, 2017 , ... ... now treating sleep apnea using cutting-edge Oventus O2Vent technology. As many ... sleep disorder characterized by frequent cessation in breathing. Oral appliances can offer significant ...
(Date:10/12/2017)... ... ... The American College of Medical Informatics (ACMI) will present the 2017 Morris ... of AMIA’s Annual Symposium in Washington, D.C. AMIA’s Annual Symposium is taking ... in the field of medical informatics, this prestigious award is presented to an individual ...
(Date:10/12/2017)... ... October 12, 2017 , ... HMP , a leader ... a 2017 Folio Magazine Eddie Digital Award for ‘Best B-to-B Healthcare Website.’ Winners were ... 11, 2017. , The annual award competition recognizes editorial and design excellence across a ...
Breaking Medicine News(10 mins):
(Date:9/27/2017)... and NEW YORK , Sept. 27, 2017 /PRNewswire/ ... health and big data solutions, today announced that its MyDario product is ... your local TV listings for when The Dr. Oz Show airs in ... The nine-time ... month. ...
(Date:9/23/2017)... Janssen Biotech, Inc. (Janssen) announced today that ... U.S. Food and Drug Administration (FDA) for the Biologics ... treatment of moderately to severely active rheumatoid arthritis (RA). ... needed to further evaluate the safety of sirukumab in ... "We are disappointed ...
(Date:9/19/2017)... a venture-backed medical device company developing a non-invasive, robotically assisted, platform therapy that uses pulsed ...   ... Jim Bertolina, ... Tom Tefft ... medical device executive Josh Stopek , PhD, who has led R&D and business development ...
Breaking Medicine Technology: