In a study published in Molecular Neurodegeneration an international group of scientists including researchers from KTH have used a multiplex plasma profiling assay and a well-described genetic frontotemporal dementia (FTD) cohort collected within the GENFI study to explore potential plasma biomarkers that could reflect the pathology of this disease.

Frontotemporal dementia (FTD) is a group of neurodegenerative diseases displaying great heterogeneity in terms of clinical symptoms, underlying genetic causes, and neuropathological findings. Efforts have been made to explain this diversity by searching for biomarkers, mainly in cerebrospinal fluid (CSF). Finding blood-based biomarkers would be very valuable considering the availability and easy access to blood in comparison to CSF. There exists one well-known blood-based biomarker for genetic FTD, progranulin (GRN), which is reduced in individuals with mutations in the GRN gene and there are also a few other potential biomarkers that are not specific for FTD.

In this exploratory plasma profiling study, more than 150 proteins in almost 700 individuals were used to investigate differences in plasma protein levels between symptomatic and presymptomatic mutation carriers compared to non-carrier family members serving as controls.

The results indicate alterations in plasma protein levels between symptomatic mutation carriers and non-carrier controls, as well as gene specific differences in GRN mutation carriers. Sets of proteins with significantly increased plasma proteins in patients with genetic FTD compared to non-carrier controls as well as compared to presymptomatic mutation carriers were identified.

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