Beyond the brain: MND-associated mutations and the immune response v1
Research type
Research Study
Full title
Beyond the Brain: The effect of causative MND/ALS mutations on the pro-inflammatory response to bacterial infection
IRAS ID
364468
Contact name
Jaclyn Pearson
Contact email
Sponsor organisation
University of St Andrews
Duration of Study in the UK
0 years, 8 months, 30 days
Research summary
It has been suggested that Motor Neurone Disease (MND) affects 11.9 per 100,000 people in the UK, and 90% of those individuals will have the Amyotrophic Lateral Sclerosis (ALS) form of the condition that is associated with significant loss of motor function due to neurodegeneration and a dramatic reduction in life length and life quality. At the time of writing, there is no cure for any forms of MND, and thus care is based around improving the quality of life of patients.
There are a number of genetic mutations that are thought to predispose individuals to ALS and MND, with some of these occurring within the protein p62. Data previously collected using cell lines showed that a reduction of p62 levels within cells of the immune system reduced the immune response against certain bacterial infections. This study will aim to see if these findings can be recapitulated in ALS suffers, and whether these people are more predisposed to certain types of infection as a result of a negative impact of ALS on their circulating immune cells - an aspect of the disease that is significantly understudied.
To do this, blood samples will be collected from MND patients from specialised MND clinics across NHS Fife, and from these samples macrophages, a cell of the innate immune response, will be purified. These cells will then be exposed to bacterial insult and the immune response generated will be measured. To determine whether this is indeed as a result of mutations with or effects of the p62 protein DNA sequencing will be explored to attempt to stratify any different responses that are observed.REC name
London - Camberwell St Giles Research Ethics Committee
REC reference
26/PR/0276
Date of REC Opinion
26 Mar 2026
REC opinion
Further Information Favourable Opinion