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 July 25, 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 July 25, 2014).

Share This




More Health & Medicine News

Friday, July 25, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Beatings and Addiction: Pakistan Drug 'clinic' Tortures Patients

Beatings and Addiction: Pakistan Drug 'clinic' Tortures Patients

AFP (July 24, 2014) A so-called drugs rehab 'clinic' is closed down in Pakistan after police find scores of ‘patients’ chained up alleging serial abuse. Duration 03:05 Video provided by AFP
Powered by NewsLook.com
Too Few Teens Receiving HPV Vaccination, CDC Says

Too Few Teens Receiving HPV Vaccination, CDC Says

Newsy (July 24, 2014) The Centers for Disease Control and Prevention is blaming doctors for the low number of children being vaccinated for HPV. Video provided by Newsy
Powered by NewsLook.com
New Painkiller Designed To Discourage Abuse: Will It Work?

New Painkiller Designed To Discourage Abuse: Will It Work?

Newsy (July 24, 2014) The FDA approved Targiniq ER on Wednesday, a painkiller designed to keep users from abusing it. Like any new medication, however, it has doubters. Video provided by Newsy
Powered by NewsLook.com
Doctor At Forefront Of Fighting Ebola Outbreak Gets Ebola

Doctor At Forefront Of Fighting Ebola Outbreak Gets Ebola

Newsy (July 24, 2014) Sheik Umar Khan has treated many of the people infected in the Ebola outbreak, and now he's become one of them. 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