Sterol biomarkers for ALS

PI Prof. William Griffiths
Co-investigators Prof. Yuqin Wang
Collaborators Prof. Martin Turner,
Prof. Robert Brown,
Prof. David Skibinski
PI organisation Swansea University
Funding awarded £308,495
Completion date 31st December 2025 (18 months)

Despite advances in knowledge about MND, diagnosis and treatment have lagged behind because we lack effective biomarkers – biochemical signatures that indicate presence of a disease and give information about disease type and progression. Currently there are no biomarkers that are specific to MND.

Cholesterol is essential for motor neurons, but studies have identified high blood-cholesterol levels as a risk factor for MND. Other studies show links between disturbed cholesterol production and genetic mutations that cause MND. Disturbed cholesterol production leads to abnormal cholesterol metabolites (substances created when cholesterol is broken down) in blood, something we found in pilot work. We will now expand earlier studies to a large number of blood samples from people with MND, to establish definitively how cholesterol and its metabolites change at disease presentation and during progression. This should identify biomarkers that could be used to diagnose MND earlier and monitor disease progression and treatment response.