Navigation Links
New gene test offers personalized treatment for inherited neuromuscular disorder
Date:2/11/2011

The gene, GFPT1, has been identified by researchers at Newcastle University working with international colleagues, as crucial in causing a variation of Congenital Myasthenic Syndrome (CMS).

The condition came to prominence in recent times in the UK with the plight of baby RB, who was at the centre of a "right-to-life" legal dispute.

CMS is a rare genetic condition affecting the way signals travel between the brain and muscles which can cause paralysis and in some cases death. It affects one in every 500,000 births and the severity of the condition varies, depending on where the fault lies in the complex signals between the nerves and the muscles.

The variation of CMS identified by researchers, GFPT1, tends to develop in the first ten years of life with patients losing muscle strength and control in their hips and shoulders or arms and legs.

"The identification of this gene means that doctors can order genetic analysis and confirm the condition allowing earlier treatment with cholinesterase inhibitors," explained Professor Hanns Lochmller of the Institute of Human Genetics at Newcastle University.

"This offers an effective therapy which can be taken through life," he added.

The research also highlighted a new area to explore for future treatments as GFPT1 is involved in initiating the metabolism of amino sugar.

The international team, headed up by Dr. Jan Senderek from the University of Aachen in Germany and by Dr Juliane Mller from Newcastle University, analysed the genes of 13 families affected by the condition.


'/>"/>

Contact: Hanns Lochmuller
hanns.lochmuller@ncl.ac.uk
01-912-418-602
Newcastle University
Source:Eurekalert

Page: 1

Related biology news :

1. Worm genome offers clues to evolution of parasitism
2. Advance offers revolution in food safety testing
3. Light pollution offers new global measure of coral reef health
4. Rong Li Lab offers insight into adaptive ability of cells
5. International public-private partnership offers new paradigm for medicinal chemistry
6. UC Davis discovery offers hope for treating kidney cancer
7. New paper offers key insights into how new species emerge
8. Study offers clues to beating hearing loss
9. Fighting global warming offers growth and development opportunities
10. Brown-led team offers first look at how bats land
11. Star Trek-like technology offers noninvasive monitor for patients and athletes
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:10/4/2017)... Oct. 4, 2017  GCE Solutions, a global clinical research organization ... document anonymization solution on October 4, 2017. Shadow is designed to ... comply with policy 0070 of the European Medicines Agency (EMA) in ... ... ...
(Date:6/23/2017)... and ITHACA, N.Y. , ... and Cornell University, a leader in dairy research, today ... bioinformatics designed to help reduce the chances that the ... the onset of this dairy project, Cornell University has ... for Sequencing the Food Supply Chain, a food safety ...
(Date:5/6/2017)... 2017 RAM Group , Singaporean ... breakthrough in biometric authentication based on a ... to perform biometric authentication. These new sensors are based ... by Ram Group and its partners. This sensor will ... chains and security. Ram Group is a next ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... ... October 11, 2017 , ... At its ... announced Dr. Suneel I. Sheikh, the co-founder, CEO and chief research scientist of ... been selected for membership in ARCS Alumni Hall of Fame . ASTER ...
(Date:10/11/2017)... , Oct. 11, 2017  VMS BioMarketing, a leading ... a nationwide oncology Clinical Nurse Educator (CNE) network, which will ... need for communication among health care professionals to enhance the ... nurses, office staff, and other health care professionals to help ... breast cancer. ...
(Date:10/10/2017)... ... October 10, 2017 , ... San Diego-based team building and cooking events company, ... today. The bold new look is part of a transformation to increase awareness, ... significant growth period. , It will also expand its service offering from its signature ...
(Date:10/10/2017)... SANTA CRUZ, Calif. , Oct. 10, 2017 /PRNewswire/ ... SBIR grant from the NIH to develop RealSeq®-SC (Single ... preparation kit for profiling small RNAs (including microRNAs) from ... Cell Analysis Program highlights the need to accelerate development ... "New techniques for ...
Breaking Biology Technology: