Featured Research

from universities, journals, and other organizations

Researchers Discover New Clinical Syndrome Leading To Severe Osteoarthritis

Date:
May 4, 2004
Source:
Case Western Reserve University
Summary:
Researchers from Case Western Reserve University School of Medicine and University Hospitals of Cleveland, and the University of California, San Diego have discovered a new clinical syndrome which they have named hereditary chondrolysis, a rare disabling disease in which the cartilage debonds from bone.

Researchers from Case Western Reserve University School of Medicine and University Hospitals of Cleveland, and the University of California, San Diego have discovered a new clinical syndrome which they have named hereditary chondrolysis, a rare disabling disease in which the cartilage debonds from bone, leading to severe generalized osteoarthritis. The findings, presented at the 50th Annual Meeting of the Orthopedic Research Society in San Francisco in March, may shed light on cartilage breakdown and forms of osteoarthritis.

The researchers uncovered two mutations involving the FRZB ("frisbee") gene located on chromosome 2, which has been implicated in familial osteoarthritis. In previous laboratory studies done elsewhere, FRZB appears to be important in the development of human limbs at a young age. Although the finding of the mutation in both affected and unaffected family members makes the mutation in and of itself insufficient to cause the clinical syndrome, it may play a role in what could be a polygenic trait.

"Further studies defining the genetic mutation related to chondrolysis seen in the family we reported have the potential not only for providing targets for approaches to treatment in the family, but may provide important information as to mechanisms of cartilage degeneration seen in the millions of individuals who suffer from primary osteoarthritis," said Roland Moskowitz, M.D., one of the investigators and a professor of medicine at Case and UHC. "The known relationship of the FRZB gene to embryonic skeletal development, and the observation by others that women with hip osteoarthritis have an increased frequency of this gene add to the significance of our observations," said Moskowitz, a leading expert on osteoarthritis.

The researchers made the findings after screening seven families with familial osteoarthritis looking for specific gene mutations. They discovered a family referred from elsewhere wherein the father, two daughters and a son have hereditary chondrolysis. In the family, this disease was so pronounced that the cartilage peeled off the bone, affecting mostly the shoulders, hips and knees. Several affected members of the family developed osteoarthritis in their first decade of life, and needed joint replacement by the time they reached their 20s. The youngest child underwent several arthroscopic procedures beginning at 16. The middle sibling needed a complete hip arthroplasty by age 26, and a second hip replacement less than two years later.

The lead author of the report is Daniel Holderbaum, Ph.D., senior research associate in Moskowitz's laboratory.


Story Source:

The above story is based on materials provided by Case Western Reserve University. Note: Materials may be edited for content and length.


Cite This Page:

Case Western Reserve University. "Researchers Discover New Clinical Syndrome Leading To Severe Osteoarthritis." ScienceDaily. ScienceDaily, 4 May 2004. <www.sciencedaily.com/releases/2004/05/040504061116.htm>.
Case Western Reserve University. (2004, May 4). Researchers Discover New Clinical Syndrome Leading To Severe Osteoarthritis. ScienceDaily. Retrieved September 22, 2014 from www.sciencedaily.com/releases/2004/05/040504061116.htm
Case Western Reserve University. "Researchers Discover New Clinical Syndrome Leading To Severe Osteoarthritis." ScienceDaily. www.sciencedaily.com/releases/2004/05/040504061116.htm (accessed September 22, 2014).

Share This



More Health & Medicine News

Monday, September 22, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Global Ebola Aid Increasing But Critics Say It's Late

Global Ebola Aid Increasing But Critics Say It's Late

Newsy (Sep. 21, 2014) More than 100 tons of medical supplies were sent to West Africa on Saturday, but aid workers say the global response is still sluggish. Video provided by Newsy
Powered by NewsLook.com
Sierra Leone in Lockdown to Control Ebola

Sierra Leone in Lockdown to Control Ebola

AP (Sep. 21, 2014) Sierra Leone residents remained in lockdown on Saturday as part of a massive effort to confine millions of people to their homes in a bid to stem the biggest Ebola outbreak in history. (Sept. 20) Video provided by AP
Powered by NewsLook.com
Sierra Leone's Nationwide Ebola Curfew Underway

Sierra Leone's Nationwide Ebola Curfew Underway

Newsy (Sep. 20, 2014) Sierra Leone is locked down as aid workers and volunteers look for new cases of Ebola. Video provided by Newsy
Powered by NewsLook.com
Changes Found In Brain After One Dose Of Antidepressants

Changes Found In Brain After One Dose Of Antidepressants

Newsy (Sep. 19, 2014) A study suggest antidepressants can kick in much sooner than previously thought. 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:
from the past week

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