Progranulin Levels in Plasma and Cerebrospinal Fluid in Granulin Mutation Carriers.

ABSTRACT:

Background

Pathogenic mutations in the granulin gene (GRN) are causative in 5-10% of patients with frontotemporal dementia (FTD), mostly leading to reduced progranulin protein (PGRN) levels. Upcoming therapeutic trials focus on enhancing PGRN levels.

Methods

Fluctuations in plasma PGRN (n = 41) and its relationship with cerebrospinal fluid (CSF, n = 32) and specific single nucleotide polymorphisms were investigated in pre- and symptomatic GRN mutation carriers and controls.

Results

Plasma PGRN levels were lower in carriers than in controls and showed a mean coefficient of variation of 5.3% in carriers over 1 week. Although plasma PGRN correlated with CSF PGRN in carriers (r = 0.54, p = 0.02), plasma only explained 29% of the variability in CSF PGRN. rs58

SUBMITTER: Meeter LH 

PROVIDER: S-EPMC5040889 | biostudies-literature | 2016 May-Aug

REPOSITORIES: biostudies-literature