Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Researchers identify second gene responsible for rare syndrome associated with skeletal defects

18.08.2003


UT Southwestern Medical Center at Dallas researchers have discovered a second gene responsible for a rare syndrome that causes the loss of bone from the lower jaw, fingers, toes and collarbone.



The researchers isolated the gene, zinc metalloproteinase (ZMPSTE24), in a patient who had all of the classic characteristics of mandibuloacral dysplasia (MAD) but did not have a mutation in the LMNA gene, previously reported as a cause of the disorder.

In addition to causing MAD, mutations in this newly discovered gene may also lead to progeroid features, or premature aging, generalized loss of body fat and early death, the researchers report. The study appears in today’s publication of the journal Human Molecular Genetics and also is available online.


"It was known that a mutation in LMNA caused MAD, but in several of the individuals that we studied LMNA was normal," said Dr. Abhimanyu Garg, professor of internal medicine and the study’s senior author. "This led us to look at other genes that were associated with lamin A production. We considered ZMPSTE24 as a candidate gene based on recent reports that deletion of this gene in mice resulted in the development of similar physical features of the human form of MAD."

The LMNA gene encodes two proteins, lamin A and lamin C, which are components of the membrane of the cell nucleus. The zinc metalloproteinase enzyme is essential for producing the active form of lamin A. Besides MAD, LMNA mutations are linked to several conditions including a body-fat disorder called familial partial lipodystrophy, muscular dystrophy, cardiomyopathy and a premature aging disorder called progeria.

"It is likely that minor changes in these genes may predispose individuals to premature aging, a change of body-fat distribution, as well as osteoporosis," said Dr. Garg.

The researchers studied six individuals with MAD and found a mutation in LMNA in two. Of the remaining four individuals, who did not have a mutation in the LMNA gene, one was found to have mutations in ZMPSTE24. Dr. Garg is currently searching for mutations in other genes that are involved in processing of lamin A in three of the patients who did not have mutations in either LMNA or ZMPSTE24.


Other researchers contributing to the study were Dr. Anil Agarwal, assistant professor of internal medicine and lead author of the study, and Dr. Richard Auchus, assistant professor of internal medicine, both from UT Southwestern; and a scientist from the University Hospital of Leuven in Belgium.

The study was funded by the National Institutes of Health and Southwestern Medical Foundation.

Amy Shields | EurekAlert!
Further information:
http://www.swmed.edu/

More articles from Health and Medicine:

nachricht Routing gene therapy directly into the brain
07.12.2017 | Boston Children's Hospital

nachricht New Hope for Cancer Therapies: Targeted Monitoring may help Improve Tumor Treatment
01.12.2017 | Berliner Institut für Gesundheitsforschung / Berlin Institute of Health (BIH)

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Long-lived storage of a photonic qubit for worldwide teleportation

MPQ scientists achieve long storage times for photonic quantum bits which break the lower bound for direct teleportation in a global quantum network.

Concerning the development of quantum memories for the realization of global quantum networks, scientists of the Quantum Dynamics Division led by Professor...

Im Focus: Electromagnetic water cloak eliminates drag and wake

Detailed calculations show water cloaks are feasible with today's technology

Researchers have developed a water cloaking concept based on electromagnetic forces that could eliminate an object's wake, greatly reducing its drag while...

Im Focus: Scientists channel graphene to understand filtration and ion transport into cells

Tiny pores at a cell's entryway act as miniature bouncers, letting in some electrically charged atoms--ions--but blocking others. Operating as exquisitely sensitive filters, these "ion channels" play a critical role in biological functions such as muscle contraction and the firing of brain cells.

To rapidly transport the right ions through the cell membrane, the tiny channels rely on a complex interplay between the ions and surrounding molecules,...

Im Focus: Towards data storage at the single molecule level

The miniaturization of the current technology of storage media is hindered by fundamental limits of quantum mechanics. A new approach consists in using so-called spin-crossover molecules as the smallest possible storage unit. Similar to normal hard drives, these special molecules can save information via their magnetic state. A research team from Kiel University has now managed to successfully place a new class of spin-crossover molecules onto a surface and to improve the molecule’s storage capacity. The storage density of conventional hard drives could therefore theoretically be increased by more than one hundred fold. The study has been published in the scientific journal Nano Letters.

Over the past few years, the building blocks of storage media have gotten ever smaller. But further miniaturization of the current technology is hindered by...

Im Focus: Successful Mechanical Testing of Nanowires

With innovative experiments, researchers at the Helmholtz-Zentrums Geesthacht and the Technical University Hamburg unravel why tiny metallic structures are extremely strong

Light-weight and simultaneously strong – porous metallic nanomaterials promise interesting applications as, for instance, for future aeroplanes with enhanced...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

See, understand and experience the work of the future

11.12.2017 | Event News

Innovative strategies to tackle parasitic worms

08.12.2017 | Event News

AKL’18: The opportunities and challenges of digitalization in the laser industry

07.12.2017 | Event News

 
Latest News

Long-lived storage of a photonic qubit for worldwide teleportation

12.12.2017 | Physics and Astronomy

Multi-year submarine-canyon study challenges textbook theories about turbidity currents

12.12.2017 | Earth Sciences

Electromagnetic water cloak eliminates drag and wake

12.12.2017 | Power and Electrical Engineering

VideoLinks
B2B-VideoLinks
More VideoLinks >>>