Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A.

ABSTRACT:

Objective

Development of biomarkers for Charcot-Marie-Tooth (CMT) disease is critical for implementing effective clinical trials. The most common form of CMT, type 1A, is caused by a genomic duplication surrounding the PMP22 gene. A recent report (Neurology 2018;90:e518-3524) showed elevation of neurofilament light (NfL) in plasma of CMT1A disease patients, which correlated with disease severity. However, no plasma/serum biomarker has been identified that is specific to Schwann cells, the most directly affected cells in CMT1A.

Methods

We used the Olink immuno PCR platform to profile CMT1A patient (n = 47, 2 cohorts) and normal control plasma (n = 41, two cohorts) on five different Olink panels to screen 398 unique proteins.

Results

The TMPRSS5 protein (Transmembrane p

SUBMITTER: Wang H 

PROVIDER: S-EPMC6952315 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature