Featured Research

from universities, journals, and other organizations

Genetic Mutation Found In Peripheral Artery Disease

Date:
February 26, 2008
Source:
Duke University Medical Center
Summary:
A tiny handful of genes appears to hold important clues to understanding why some patients with peripheral artery disease face high rates of amputation and early death while others are spared those consequences, say researchers. This is the first documented genetic mutation linked to PAD. Although the work was done in mice, researchers say it is likely to give them new insight into how PAD develops and progresses in humans.

A tiny handful of genes appears to hold important clues to understanding why some patients with peripheral artery disease (PAD) face high rates of amputation and early death while others are spared those consequences, say researchers at Duke University Medical Center.

Related Articles


The finding, appearing online in the journal Circulation, is the first to document a genetic mutation linked to PAD. Although the work was done in mice, researchers say it is likely to give them new insight into how PAD develops and progresses in humans.

Dr. Brian Annex, professor of medicine and director of vascular medicine at Duke, says the study stemmed directly from his clinical experience. "Over and over, I'd see two patients show up at the same time. They would be the same sex, same age, have identical risk factors and have similar blockages in their arteries. One of them would experience very slow progression of the disease, while the other would face limb loss or death within six months. I just knew there just had to be a genetic basis for it."

Peripheral arterial disease occurs when major arteries in the legs become clogged with plaque, a fatty build-up that's similar to the deposits in coronary arteries that can lead to a heart attack. Symptoms range from leg pain brought on by walking that goes away with rest -- that's the more benign form of the disease -- to a more serious form, marked by continuous pain and sores and ulcers on the legs that often lead to amputation.

Annex says the mild form rarely progresses into the more severe form. "In reality, we may be looking at two types of diseases, although we've always thought of PAD as one."

Annex had the perfect participants for the study right at his fingertips: two strains of mice with surgically-induced blocked blood flow that mimicked human response to PAD. One strain recovered well, showing restored blood flow and little tissue death; the other had greater tissue loss and poor recovery of normal blood flow.

In collaboration with Dr. Douglas Marchuk, a professor of molecular genetics and microbiology at Duke, researchers crossbred the two strains and eventually isolated a mouse that enabled them to identify a relatively small region on chromosome 7 that appears to protect the mice from the consequences of the surgically-induced, PAD-like injury.

"Essentially, we now have a field of about 20 genes that we think may be involved in shaping the way peripheral artery disease develops," says Annex. "At this point, we are not certain which ones are playing an active role, however. Still, we feel strongly that our discovery opens a new wave of investigation that may one day yield novel prevention strategies or treatments."

The study was funded by the National Institutes of Health.

Colleagues from Duke who contributed to the study include co-lead authors Ayotunde Dokun, from the division of endocrinology; Sehoon Keum, from the division of molecular genetics and microbiology; Surovi Hazarika, Yongjun Li, and co-senior author Douglas Marchuk, also from the department of molecular genetics and microbiology.


Story Source:

The above story is based on materials provided by Duke University Medical Center. Note: Materials may be edited for content and length.


Cite This Page:

Duke University Medical Center. "Genetic Mutation Found In Peripheral Artery Disease." ScienceDaily. ScienceDaily, 26 February 2008. <www.sciencedaily.com/releases/2008/02/080222095421.htm>.
Duke University Medical Center. (2008, February 26). Genetic Mutation Found In Peripheral Artery Disease. ScienceDaily. Retrieved November 26, 2014 from www.sciencedaily.com/releases/2008/02/080222095421.htm
Duke University Medical Center. "Genetic Mutation Found In Peripheral Artery Disease." ScienceDaily. www.sciencedaily.com/releases/2008/02/080222095421.htm (accessed November 26, 2014).

Share This


More From ScienceDaily



More Health & Medicine News

Wednesday, November 26, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

From Popcorn To Vending Snacks: FDA Ups Calorie Count Rules

From Popcorn To Vending Snacks: FDA Ups Calorie Count Rules

Newsy (Nov. 25, 2014) — The US FDA is announcing new calorie rules on Tuesday that will require everywhere from theaters to vending machines to include calorie counts. Video provided by Newsy
Powered by NewsLook.com
Daily Serving Of Yogurt Could Reduce Risk Of Type 2 Diabetes

Daily Serving Of Yogurt Could Reduce Risk Of Type 2 Diabetes

Newsy (Nov. 25, 2014) — Need another reason to eat yogurt every day? Researchers now say it could reduce a person's risk of developing type 2 diabetes. Video provided by Newsy
Powered by NewsLook.com
Madagascar Working to Contain Plague Outbreak

Madagascar Working to Contain Plague Outbreak

AFP (Nov. 24, 2014) — Madagascar said Monday it is trying to contain an outbreak of plague -- similar to the Black Death that swept Medieval Europe -- that has killed 40 people and is spreading to the capital Antananarivo. Duration: 00:42 Video provided by AFP
Powered by NewsLook.com
Are Female Bosses More Likely To Be Depressed?

Are Female Bosses More Likely To Be Depressed?

Newsy (Nov. 24, 2014) — A new study links greater authority with increased depressive symptoms among women in the workplace. Video provided by Newsy
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
 
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:  

Breaking News:

Strange & Offbeat Stories

 

Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:  

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile iPhone Android Web
Follow Facebook Twitter Google+
Subscribe RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins