Analysis of pathology in patients with neurological diseases
Research type
Research Study
Full title
Analysis of pathology in patients with neurological diseases
IRAS ID
327175
Contact name
Brian Bigger
Contact email
Sponsor organisation
University of Manchester
Duration of Study in the UK
5 years, 0 months, 1 days
Research summary
Neurological lysosomal storage diseases (LSDs) are rare, inherited metabolic disorders caused by lysosomal enzyme deficiencies. LSDs are characterised by the abnormal and toxic accumulation of undegraded substrates such certain lipids (fats) and carbohydrates (sugars) in the lysosome of a cell. This causes a disruption of normal cellular function, leading to inflammation, cell death and ultimately severe neurodegeneration and premature death in children. Viable treatment options are limited and there are no current 'cures'.
Despite the distinctive types of storage material in different metabolic neurological diseases, not a lot of research has been performed on human tissue samples as LSDs are very rare and therefore tissue samples are hard to obtain. Thus, advances in our understanding of the disease mechanisms are important for the identification of potential therapeutic targets and development of new treatments.
Around 2/3 of lysosomal disease patients present clinically with a severe central nervous system pathology. This can lead to behavioural problems, cognitive decline, dementia and finally early death in infants and children. An example is Mucopolysaccharidosis (MPS) IIIA, a rare inherited neurological lysosomal storage disease driven by an impaired metabolism of heparan sulfate (HS). Most lysosomal diseases have a similar aetiology, and may share features with other neurological diseases such as Alzheimer’s disease.
We aim to comparatively analyse the pathology of LSD tissue samples with different neurological diseases (e.g. Alzheimer’s) and healthy control samples in order to understand how similar or dissimilar they are.
The analysis of all samples will be conducted by the research team at the Stem Cell Neurotherapies laboratory at the University of Manchester. We aim to collect relevant samples from biobanks and registered morticians that have been donated post-mortem. There will be no direct participant involvement. All samples will have pre-consent for research purposes upon collection.REC name
North East - York Research Ethics Committee
REC reference
23/NE/0107
Date of REC Opinion
18 May 2023
REC opinion
Favourable Opinion