Featured Research

from universities, journals, and other organizations

Gene identified, responsible for a spectrum of disorders affecting the bones and connective tissue

Date:
May 9, 2013
Source:
RIKEN
Summary:
Researchers have identified a gene that when mutated is responsible for a spectrum of disorders affecting the bones and connective tissue. This finding opens new avenues for research into a diagnosis and treatment for these until now incurable diseases. 

Researchers from the RIKEN Center for Integrative Medical Sciences have identified a gene that when mutated is responsible for a spectrum of disorders affecting the bones and connective tissue. This finding opens new avenues for research into a diagnosis and treatment for these until now incurable diseases.

Related Articles


The study is published today in the American Journal of Human Genetics.

Spondyloepimetaphyseal dysplasia with joint laxity, type I or SEMD-JL1 is a disorder of the skeleton resulting in short stature and spinal problems starting from birth, and worsening with age. The disease is also known as SEMD Beighton type.

In order to find the gene responsible for the disorder, and Dr Ikegawa and his team examined the entire coding sequence of the genome of 7 individuals suffering from SEMD-JL1 using next-generation sequencing technology.

The researchers found that the study subjects all had mutations that resulted in significant loss of function of the gene B3GALT6, known to be involved in the biosynthesis of an important component of connective tissue.

To the reseachers' surprise, mutations in B3GALT6 were also found in patients suffering from a disorder of the connective tissue called Ehlers-Danlos syndrome progeroid type.The researchers show that a deficiency in the B3GALT6 enzyme results in a spectrum of disorders affecting various tissues, including the skin, bones, cartilage, tendons and ligaments. Their results indicate that B3GALT6 is essential for the development and the maintenance of these tissues.

B3GALT6 is known to encode for an enzyme involved in the biosynthesis of the glucosaminoglycan (GAG) linker region.

"The GAG linker region is key for GAG biosynthesis and proteoglycan metabolism," explains Dr Ikegawa "and proteoglycans are important because they are a major component of the matrix of connective tissue in animals."

"Our findings show that mutations in B3GALT6 cause a spectrum of disorders that were previously thought to belong to different families of diseases - some were thought to be skeletal dysplasia and others connective tissue disorders," explain the authors.

"More clinical, genetic and biological studies are needed to understand the pathological mechanism of the diseases and the role of GAG metabolism and function," they conclude.


Story Source:

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


Journal Reference:

  1. Masahiro Nakajima, Shuji Mizumoto, Noriko Miyake, Ryo Kogawa, Aritoshi Iida, Hironori Ito, Hiroshi Kitoh, Aya Hirayama, Hiroshi Mitsubuchi, Osamu Miyazaki, Rika Kosaki, Reiko Horikawa, Angeline Lai, Roberto Mendoza-Londono, Lucie Dupuis, David Chitayat, Andrew Howard, Gabriela F. Leal, Denise Cavalcanti, Yoshinori Tsurusaki, Hirotomo Saitsu, Shigehiko Watanabe, Ekkehart Lausch, Sheila Unger, Luisa Bonafι, Hirofumi Ohashi, Andrea Superti-Furga, Naomichi Matsumoto, Kazuyuki Sugahara, Gen Nishimura, Shiro Ikegawa. Mutations in B3GALT6, which Encodes a Glycosaminoglycan Linker Region Enzyme, Cause a Spectrum of Skeletal and Connective Tissue Disorders. The American Journal of Human Genetics, 2013; DOI: 10.1016/j.ajhg.2013.04.003

Cite This Page:

RIKEN. "Gene identified, responsible for a spectrum of disorders affecting the bones and connective tissue." ScienceDaily. ScienceDaily, 9 May 2013. <www.sciencedaily.com/releases/2013/05/130509133249.htm>.
RIKEN. (2013, May 9). Gene identified, responsible for a spectrum of disorders affecting the bones and connective tissue. ScienceDaily. Retrieved February 1, 2015 from www.sciencedaily.com/releases/2013/05/130509133249.htm
RIKEN. "Gene identified, responsible for a spectrum of disorders affecting the bones and connective tissue." ScienceDaily. www.sciencedaily.com/releases/2013/05/130509133249.htm (accessed February 1, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Sunday, February 1, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Hikers Rescued After Fall from Oregon Mountain

Hikers Rescued After Fall from Oregon Mountain

AP (Feb. 1, 2015) — Two climbers who were hurt in a fall on Mount Hood are now being treated for their injuries. Rescue officials say they were airlifted off the mountain Saturday afternoon by an Oregon National Guard helicopter. (Feb. 2) Video provided by AP
Powered by NewsLook.com
Smart Glasses Augment Reality to Help Visually Impaired

Smart Glasses Augment Reality to Help Visually Impaired

Reuters - Innovations Video Online (Feb. 1, 2015) — New augmented reality smart glasses developed by researchers at Oxford University can help people with visual impairments improve their vision by providing depth-based feedback, allowing users to "see" better. Joel Flynn reports. Video provided by Reuters
Powered by NewsLook.com
Flu Season Hitting Elderly Hard

Flu Season Hitting Elderly Hard

Reuters - US Online Video (Jan. 31, 2015) — The CDC says this year&apos;s flu season is hitting people 65 years of age and older especially hard. Linda So reports. Video provided by Reuters
Powered by NewsLook.com
CDC: Get Vaccinated for Measles

CDC: Get Vaccinated for Measles

Reuters - US Online Video (Jan. 30, 2015) — The CDC is urging people to get vaccinated for measles amid an outbreak that began at Disneyland and has now infected more than 90 people. Linda So reports. Video provided by Reuters
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