Glycerophosphoinositol is Elevated in Blood Samples From CLN3 ^Δex7-8 pigs, Cln3 ^Δex7-8 Mice, and CLN3-Affected Individuals.

ABSTRACT:

Introduction

CLN3 Batten disease is a rare pediatric neurodegenerative lysosomal disorder caused by biallelic disease-associated variants in CLN3. Despite decades of intense research, specific biofluid biomarkers of disease status have not been reported, hindering clinical development of therapies. Thus, we sought to determine whether individuals with CLN3 Batten disease have elevated levels of specific metabolites in blood.

Methods

We performed an exhaustive metabolomic screen using serum samples from a novel minipig model of CLN3 Batten disease and validated findings in CLN3 pig serum and CSF and Cln3 mouse serum. We further validate biomarker candidates with a retrospective analysis of plasma and CSF samples collected from participants in a natural hi

SUBMITTER: Brudvig JJ 

PROVIDER: S-EPMC9535353 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature