Serum chitotriosidase-1 (CHIT1) as candidate biomarker for mitochondriopathies.

ABSTRACT:

Background

Neuromuscular diseases (NMDs) and mitochondriopathies are rare and heterogeneous disorders. Diagnosis is often difficult and delayed, partly due to the lack of reliable biomarkers. Chitotriosidase (CHIT1) as a candidate marker for lysosomal storage diseases is elevated in Niemann pick disease type C as a prototype of this group of diseases. Most recently, a relevant role of the lysosomal pathway in mitochondriopathies has been discussed, but markers of lysosomal involvement have not been investigated. Therefore, the aim of this study was to evaluate CHIT1 concentrations in a broad spectrum of NMDs and mitochondriopathies.

Methods

CHIT1 serum concentration of 151 patients with NMD or primary mitochondriopathy was determined by enzyme-linked immunosorbent assay, and

SUBMITTER: Foerster L 

PROVIDER: S-EPMC11787199 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature