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Approved Research

Examining unique and shared plasma proteomic characteristics in individuals with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia

Principal Investigator: Dr Sanjay Budhdeo
Approved Research ID: 176832
Approval date: April 10th 2024

Lay summary

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are two conditions with limited life expectancy and a paucity of treatment options. They form part of larger group of neurodegenerative disorders, which have different sets of causes but are all incurable.

This research aims to better understand ALS and FTD by identifying proteins which are increased and decreased in participants with these conditions versus participants without them. Proteins are produced from genes, so measuring protein levels can link the impact of genetic mutations to disease symptoms. Using plasma proteomics allows for an measure during the life of subjects with disease.  The OLINK technology used by UK Biobank allows for study of a greater number of proteins than would be typical for other methods such as mass spectroscopy. The analysis carried out this project will help us understand which protein changes are specific to ALS and FTD, and which are share across both diseases, and across neurodegenerative disease. We will also compare the findings to a summary of research on gene expression in neurodegenerative diseases, to see whether the findings are similar.

The public health impact or neurodegenerative diseases result in a substantial human and economic impact on the health and social care systems. ALS and FTD tends to affect younger patients, which results in a disproportionate number of life years lost. In associated research, the identification of proteins as involved in ALS and FTD in this project will be used to identify drug repurposing candidates (i.e. potential new treatments) which can be trialled to treat ALS and FTD.

We anticipate that analysing the depth of data that the UK biobank can provide will take up to 24 months.