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:4/13/2017)... , April 13, 2017 UBM,s Advanced ... will feature emerging and evolving technology through ... Innovation Summits will run alongside the expo portion of ... sessions, panels and demonstrations focused on trending topics within ... advanced design and manufacturing event will take place June ...
(Date:4/11/2017)... -- NXT-ID, Inc. (NASDAQ:   NXTD ) ("NXT-ID" ... of independent Directors Mr. Robin D. Richards and ... furthering the company,s corporate governance and expertise. ... Gino Pereira , Chief Executive Officer ... guidance and benefiting from their considerable expertise as we move ...
(Date:4/4/2017)... , April 4, 2017   EyeLock LLC , ... that the United States Patent and Trademark Office (USPTO) ... covers the linking of an iris image with a ... and represents the company,s 45 th issued patent. ... is very timely given the multi-modal biometric capabilities that ...
Breaking Biology News(10 mins):
(Date:10/11/2017)... ... October 11, 2017 , ... ... will be hosting a Webinar titled, “Pathology is going digital. Is your lab ... digital pathology adoption best practices and how Proscia improves lab economics and realizes ...
(Date:10/11/2017)... ... October 11, 2017 , ... A new study published in ... and fresh in vitro fertilization (IVF) transfer cycles. The multi-center matched ... , After comparing the results from the fresh and frozen transfer cohorts, the ...
(Date:10/10/2017)... , ... October 10, 2017 , ... ... Center’s FirstHand program has won a US2020 STEM Mentoring Award. Representatives of the ... for Excellence in Volunteer Experience from US2020. , US2020’s mission is to change ...
(Date:10/10/2017)... ... October 10, 2017 , ... USDM ... firm for the life sciences and healthcare industries, announces a presentation by Subbu ... , The presentation, “Automating GxP Validation for Agile Cloud Platforms,” will present a ...
Breaking Biology Technology: