Featured Research

from universities, journals, and other organizations

New cause identified for children, adults with joint, skeletal, skin problems

Date:
January 24, 2014
Source:
Manchester University
Summary:
Scientists have identified the cause of a rare condition called Leri's pleonosteosis (LP). LP is an inherited condition in which children are born with contractures of multiple joints and then develop difficulty of joint movements that progress in severity with age. The research team showed that extra genetic material on chromosome number 8 caused the condition in two families from Manchester.

Scientists from The University of Manchester and Central Manchester University Hospitals NHS Foundation Trust have identified the cause of a rare condition called Leri's pleonosteosis (LP).

Dr Sid Banka from the Manchester Centre for Genomic Medicine at The University of Manchester, led a team of researchers on the study which is published in Annals of Rheumatic Diseases journal.

LP is an inherited condition in which children are born with contractures of multiple joints and then develop difficulty of joint movements that progress in severity with age. The research team showed that extra genetic material on chromosome number 8 caused the condition in two families from Manchester.

Some patients with LP also develop thickening of their skin, similar to that seen in patients with a more common disorder called scleroderma.

Using their new knowledge, the research team showed that the genetic cause of LP is linked to whether people get scleroderma or not. This work opens opportunities to understand scleroderma and explore new treatments.


Story Source:

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


Journal Reference:

  1. Sid Banka et al. Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis. Annals of Rheumatic Diseases, January 2014

Cite This Page:

Manchester University. "New cause identified for children, adults with joint, skeletal, skin problems." ScienceDaily. ScienceDaily, 24 January 2014. <www.sciencedaily.com/releases/2014/01/140124082606.htm>.
Manchester University. (2014, January 24). New cause identified for children, adults with joint, skeletal, skin problems. ScienceDaily. Retrieved September 3, 2014 from www.sciencedaily.com/releases/2014/01/140124082606.htm
Manchester University. "New cause identified for children, adults with joint, skeletal, skin problems." ScienceDaily. www.sciencedaily.com/releases/2014/01/140124082606.htm (accessed September 3, 2014).

Share This



More Health & Medicine News

Wednesday, September 3, 2014

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Snack Attack: Study Says Action Movies Make You Snack More

Snack Attack: Study Says Action Movies Make You Snack More

Newsy (Sep. 2, 2014) You're more likely to gain weight while watching action flicks than you are watching other types of programming, says a new study published in JAMA. Video provided by Newsy
Powered by NewsLook.com
U.N. Says Ebola Travel Restrictions Will Cause Food Shortage

U.N. Says Ebola Travel Restrictions Will Cause Food Shortage

Newsy (Sep. 2, 2014) The U.N. says the problem is two-fold — quarantine zones and travel restrictions are limiting the movement of both people and food. Video provided by Newsy
Powered by NewsLook.com
Doctors Fear They're Losing Battle Against Ebola

Doctors Fear They're Losing Battle Against Ebola

AP (Sep. 2, 2014) As a third American missionary is confirmed to have contracted Ebola in Liberia, doctors on the ground in West Africa fear they're losing the battle against the outbreak. (Sept. 2) Video provided by AP
Powered by NewsLook.com
Tech Giants Bet on 3D Headsets for Gaming, Healthcare

Tech Giants Bet on 3D Headsets for Gaming, Healthcare

AFP (Sep. 2, 2014) When Facebook acquired the virtual reality hardware developer Oculus VR in March for $2 billion, CEO Mark Zuckerberg hailed the firm's technology as "a new communication platform." Duration: 02:24 Video provided by AFP
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