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
Google

WWW Englemed
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
COVID vaccination gives huge boost to post-infection immunity
Fri February 26th - Vaccination is acting as a booster dose for people already enjoying some protection against COVID-19 after exposure to the disease, British scientists reported last night. More
Increased opioid agonist treatment could reduce drug deaths
Fri February 26th - Scaling up the use of opioid agonists could help to reduce drug-related deaths substantially, new international research claims. More
RECENT COMMENTS
On 09/10/2020 William Haworth wrote:
How long is recovery time after proceedure... on Ablation cuts atrial fibrillat...
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...
OUR CLIENTS
THIS WEEK'S STORIES
ENGLEMED HEALTH NEWS

Spina bifida linked to random mutations

Monday February 22nd 2021

Spina bifida may be the result of random genetic mutations early in pregnancy, British scientists have found.

The findings suggest there may not be any hereditable aspect to the disease, a discovery that could make a major difference in genetic counselling of affected families.

Researchers at the UCL Great Ormond Street Institute of Child Health have published their findings in Nature Communications.

A study of laboratory mice found that a mutation in the Vangl2 gene needs to be present in 16% of cells in developing spinal cords to cause spina bifida. This suggests it is a mosaic mutation, they say.

The scientists say they have not yet connected this mutation to the benefits of folic acid, which helps prevent the disease when taken during pregnancy.

Researcher Dr Gabriel Galea said: “Some environmental factors are known to increase the risk of these conditions occurring and very few affected individuals or their parents receive a meaningful genetic diagnosis.

“The discovery that mosaic mutations, which cause spina bifida, may not be inherited from either parent, and are not necessarily present in blood or saliva commonly used for genetic testing, may explain why.”

Dr Galea said: “We found that the requirement for cells to talk to each other makes them exquisitely vulnerable to mutations in the signalling pathway that Vangl2 acts in. We now need to understand whether this vulnerability extends to other genes which could cause spina bifida. Detecting these mosaic mutations in living people will require technological advances and careful analysis of tissues resected during surgery.”

Cell non-autonomy amplifies disruption of neurulation by mosaic Vangl2 deletion in mice Nature Communications 19 February 2021

[abstract]

Tags: Brain & Neurology | Child Health | Childbirth and Pregnancy | 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