Featured Research

from universities, journals, and other organizations

Evidence Of A New Hereditary Joint Disorder

September 30, 2005
John Wiley & Sons, Inc.
In the October 2005 issue of Arthritis & Rheumatism, researchers report clinical and laboratory findings regarding a family with a highly unusual and extremely destructive syndrome, marked by fragile articular cartilage with a tendency to "bubble" and peel away from the underlying bone.

Related Articles

A 49-year-old male, "MM1" had endured jointpain, invasive treatment, and frustration for most of his life. At age3, he was labeled with "abnormal bone structure" and subjected toimmobilization of both legs. At age 10, he began to complain of kneeand hip pain. By age 13, he had lost significant hip mobility and hisleft leg was shorter than his right. At age 16, he underwent a surgeryto separate the hip and insert a plate. Eventually, in his 40s, he hadhis hip replaced completely. Over the years, MM1 was misdiagnosed withvarious disorders, including Osgood-Schlatter disease,Legg-Calvι-Perthes disease, and spondylo-epiphyseal dysplasia. But whatmade his case clinically compelling was his children. MM1 is the fatherof 3 – 2 daughters, 1 son – all of whom suffered similar symptoms,beginning in the preteen years and continuing into adulthood. All 3children have had multiple arthroscopic procedures – on the knees,hips, and shoulders – for diagnostic and therapeutic purposes. Bothdaughters have had total hip replacement surgery. To the research team,this suggested a terribly destructive joint disease with a stronghereditary component.

To gain a clearer sense of this syndrome'sdistinctive signs, the researchers examined blood samples of both theaffected family members and unaffected relatives – MM1's parents and 4siblings – for single nucleotide polymorphisms (SNPs) in the chromosome2 region which are known to influence bone and cartilage development.Two SNPs were identified in all 4 affected family members. Yet, becausethe same SNPs were also present in MM1's unaffected mother and 2 of 4of his unaffected siblings, their role in the condition wasinconclusive.

The researchers also analyzed radiographic andarthroscopic findings in all 4 of the affected family members.Radiographs showed degenerative changes in the hips of all affected. Ofparticular interest, however, was the unusual arthroscopic evidence.

Inall 4 of the affected family members, researchers observed excessivetissue fluid and large loose bodies. What's more, they found somethingcommon, and bizarre, about the nature of each subject's cartilage: itsvulnerability to "bubbling" and peeling off in layers to expose bone,at a very early age. In OA, cartilage--the body's natural shockabsorber--gradually erodes from the toll of inflammation. The increasedstress on the bones often leads to joint damage. In this novelsyndrome, cartilage de-bonds and strips away at a radical rate, leavingbones completely unprotected and joints exceptionally susceptible toshattering.

"Further studies elucidating the mechanisms leadingto the delamination of cartilage from bone in this family," notes Dr.Moskowitz, Senior Study Investigator, "may provide insights intocartilage-bone interaction in other forms of joint degeneration."


Article:"A Newly Described Hereditary Cartilage Debonding Syndrome," D.Holderbaum, T. Malvitz, C.J. Ciesielski, D. Carson, M.P. Corr, and R.W.Moskowitz, Arthritis & Rheumatism, October 2005; 52:10; pp.3300-3304.

Story Source:

The above story is based on materials provided by John Wiley & Sons, Inc.. Note: Materials may be edited for content and length.

Cite This Page:

John Wiley & Sons, Inc.. "Evidence Of A New Hereditary Joint Disorder." ScienceDaily. ScienceDaily, 30 September 2005. <www.sciencedaily.com/releases/2005/09/050930081148.htm>.
John Wiley & Sons, Inc.. (2005, September 30). Evidence Of A New Hereditary Joint Disorder. ScienceDaily. Retrieved April 20, 2015 from www.sciencedaily.com/releases/2005/09/050930081148.htm
John Wiley & Sons, Inc.. "Evidence Of A New Hereditary Joint Disorder." ScienceDaily. www.sciencedaily.com/releases/2005/09/050930081148.htm (accessed April 20, 2015).

Share This

More From ScienceDaily

More Health & Medicine News

Monday, April 20, 2015

Featured Research

from universities, journals, and other organizations

Featured Videos

from AP, Reuters, AFP, and other news services

Humanoid Robot Can Recognise and Interact With People

Humanoid Robot Can Recognise and Interact With People

Reuters - Innovations Video Online (Apr. 20, 2015) — An ultra-realistic humanoid robot called &apos;Han&apos; recognises and interprets people&apos;s facial expressions and can even hold simple conversations. Developers Hanson Robotics hope androids like Han could have uses in hospitality and health care industries where face-to-face communication is vital. Matthew Stock reports. Video provided by Reuters
Powered by NewsLook.com
Labour Party Warns Britain's Health Service 'on Life Support'

Labour Party Warns Britain's Health Service 'on Life Support'

AFP (Apr. 20, 2015) — Britain&apos;s opposition Labour Party Monday claimed the National Health Service (NHS) was &apos;on life support&apos; as it turned its attention to the state-run service, which is a key issue for the UK&apos;s May 7 general election. Video provided by AFP
Powered by NewsLook.com
Sierra Leone Students Back to School After Long Ebola Closure

Sierra Leone Students Back to School After Long Ebola Closure

Reuters - News Video Online (Apr. 20, 2015) — After an eight-month break, children in Sierra Leone return to school for the first time since the beginning of the Ebola outbreak. Nathan Frandino reports. Video provided by Reuters
Powered by NewsLook.com
Teen E-Cigarette Use Triples, Government Debates Regulations

Teen E-Cigarette Use Triples, Government Debates Regulations

Newsy (Apr. 19, 2015) — The Centers for Disease Control and Prevention says in 2014, 13.4 percent of high school students reported smoking an e-cigarette within 30 days. 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.


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


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