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:5/16/2016)... , May 16, 2016   EyeLock LLC ... today announced the opening of an IoT Center of ... strengthen and expand the development of embedded iris biometric ... unprecedented level of convenience and security with unmatched biometric ... one,s identity aside from DNA. EyeLock,s platform uses video ...
(Date:5/3/2016)... Lithuania , May 3, 2016  Neurotechnology, ... released the MegaMatcher Automated Biometric Identification System ... of large-scale multi-biometric projects. MegaMatcher ABIS can process ... accuracy using any combination of fingerprint, face or ... MegaMatcher SDK and MegaMatcher Accelerator ...
(Date:4/26/2016)... and LONDON , ... Finacle, part of EdgeVerve Systems, a product subsidiary ... Onegini today announced a partnership to integrate the ...      (Logo: http://photos.prnewswire.com/prnh/20151104/283829LOGO ) ... provide their customers enhanced security to access and ...
Breaking Biology News(10 mins):
(Date:6/23/2016)... , ... June 23, 2016 , ... ... announced the launch of the Supplyframe Design Lab . Located in Pasadena, ... explore the future of how hardware projects are designed, built and brought to ...
(Date:6/23/2016)... BEACH, Calif. , June 23, 2016  Blueprint ... new biological discoveries to the medical community, has closed ... co-founder Matthew Nunez . "We have ... us with the capital we need to meet our ... will essentially provide us the runway to complete validation ...
(Date:6/23/2016)... ... June 23, 2016 , ... Regulatory Compliance Associates® ... provides a free webinar on Performing Quality Investigations: Getting to Root ... CT at no charge. , Incomplete investigations are still a major concern to ...
(Date:6/22/2016)... , June 22, 2016 Cell ... will allow them to produce up to one ... one lot within one week. These high-quality, consistent ... laboriously preparing cells and spend more time doing ... through a proprietary, high-volume manufacturing process that produces ...
Breaking Biology Technology: