Cerebrospinal Fluid Protein Biomarker Discovery in CLN3.

ABSTRACT: Syndromic CLN3-Batten is a fatal, pediatric, neurodegenerative disease caused by variants in CLN3, which encodes the endolysosomal transmembrane CLN3 protein. No approved treatment for CLN3 is currently available. The protracted and asynchronous disease presentation complicates the evaluation of potential therapies using clinical disease progression parameters. Biomarkers as surrogates to measure the progression and effect of potential therapeutics are needed. We performed proteomic discovery studies using cerebrospinal fluid (CSF) samples from 28 CLN3-affected and 32 age-similar non-CLN3 individuals. Proximal extension assay (PEA) of 1467 proteins and untargeted data-dependent mass spectrometry [MS; MassIVE FTP server (ftp://[e-mail])] were used to generate ort

SUBMITTER: Dang Do AN 

PROVIDER: S-EPMC11095826 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature