SIGN UP FOR UPDATES!
Sign up for Englemed updates from TwitterSign up for Englemed updates from Facebook
ENGLEMED
Contact Englemed
Our contact email address.
We can provide a specialist, tailored health and medical news service for your site.
Click here for more information
RSS graphic XML Graphic Add to Google
About Englemed news services - services and policies.
Englemed News Blog - Ten years and counting.
Diary of a reluctant allergy sufferer - How the British National Health Service deals with allergy.
BOOKS AND GIFTS THIS WAY!
BookshopFor books on women's health, healthy eating ideas, mental health issues, diabetes, etc click here
SEARCH THIS SITE
Copyright Notice. All reports, text and layout copyright Englemed Ltd, 52 Perry Avenue, Birmingham UK B42 2NE. Co Registered in England No 7053778 Some photos copyright Englemed Ltd, others may be used with permission of copyright owners.
Disclaimer: Englemed is a news service and does not provide health advice. Advice should be taken from a medical professional or appropriate health professional about any course of treatment or therapy.
FreeDigitalPhotos
www.freedigitalphotos.net
FreeWebPhotos
www.freewebphoto.com
FROM OUR NEWS FEEDS
Cancer diagnosis risk for women with sleep apnoea
Tues May 21st - Women with obstructive sleep apnoea are more likely to be diagnosed with cancer than men with the condition, according to Greek research published last night. More
Technique uncovers signs of potentially fatal cardiac arrest
Tues May 21st - A brain imaging technique has been used for the first time to help identify the signs of hypertrophic cardiomyopathy, a UK study revealed last night. More
RECENT COMMENTS
On 08/02/2018 David Kelly wrote:
Would you like to write a piece about this to be i... on Researchers unveil new pain re...
On 23/10/2017 Cristina Pereira wrote:
https://epidemicj17.imascientist.org.uk/2017/06/21... on HIV breakthrough - MRC...
On 12/09/2017 Aparna srikantam wrote:
Brilliant finding! indeed a break through in under... on Leprosy research breakthrough...
On 01/07/2017 Annetta wrote:
I have been diagnosed with COPD for over 12 years.... on Seaweed plan for antimicrobial...
On 12/03/2017 Steph wrote:
The photo you have paired with this article is its... on 'Fat shaming' limits...
OUR CLIENTS
THIS WEEK'S STORIES
ENGLEMED HEALTH NEWS

New motor neurone disease gene

Wednesday February 27th, 2019

The discovery of a new genetic subtype of motor neurone disease could lead to treatments for some patients, British scientists have reported.

Dr Johnathan Cooper-Knock and his team at Sheffield University genetically sequenced patient samples to try to identify causes for the 90% of motor neurone disease cases which are not inherited.

In Cell Reports yesterday (26 February), they describe their study of samples from two patients with an unknown familial form of motor neurone disease. This highlighted a mutation in part of an enzyme called GLT8D1.

Next, the team screened samples from 103 patients, and found that five had this mutation, leading the team to believe that had revealed a new genetic subtype of motor neurone disease.

This novel biological pathway had not previously been linked with neurodegeneration.

"This new gene does not fit into a biological function that we already know is associated with motor neurone disease, " said Dr Cooper-Knock. "That means that this finding has potential to identify completely new ways of treating motor neurone disease.

"The mutations found in patients were shown to be toxic to neurons and, when expressed in zebrafish they produced muscle weakness consistent with motor neurone disease. This work strongly suggests that the mutations are the cause of motor neurone disease in the patients where they were identified."

Co-author Professor Dame Pamela Shaw added: "Genetic screening of motor neurone disease patients is becoming increasingly important as we subclassify the disease and look for new therapeutic strategies.

"What we need is are more powerful therapies that protect motor neurons from injury and substantially slow down the progression of motor neurone disease.

“Fundamental science breakthroughs, such as this discovery, are vitally important in helping us to understand the mechanisms of disease, paving the way to find potential new therapies."

Cooper-Knock, J. et al. Cell Reports 26 February 2019

Tags: Brain & Neurology | Genetics | UK News

Printer friendly page Printer friendly page

Comment on this article:

Name:
Email:
Comment:
<a>,<b> & <p> tags allowed
Please enter the letters displayed:
(not case sensitive)
CATEGORIES