Photo Credit: ttsz
The following is a summary of “Serum chitotriosidase-1 (CHIT1) as candidate biomarker for mitochondriopathies,” published in the February 2025 issue of Journal of Neurology by Foerster et al.
Neuromuscular diseases (NMDs) and mitochondriopathies are rare disorders with challenging, delayed diagnoses due to a lack of reliable biomarkers. Chitotriosidase (CHIT1), known for its role in lysosomal storage diseases, has recently been linked to mitochondriopathies.
Researchers conducted a retrospective study to evaluate CHIT1 concentrations in various NMDs and mitochondriopathies.
They determined CHIT1 serum concentration in 151 patients with NMD or primary mitochondriopathy using an enzyme-linked immunosorbent assay. Results were compared to 38 healthy controls and 8 patients with Niemann pick disease type C, and controlled for age, sex, CRP, and CHIT1 polymorphism. Established markers (CK, FGF21, GDF15) were also used for comparison.
The results showed that CHIT1 levels were not altered in NMDs but significantly increased in mitochondriopathies, within the range of patients with Niemann-Pick. CHIT1 and FGF21 showed similar diagnostic performance, while GDF15 performed better. Higher CHIT1 concentrations were observed in patients with MELAS syndrome, whereas FGF21 and GDF15 were not significantly altered. A combination of biomarkers, including CHIT1, provided the best overall diagnostic performance.
Investigators found that serum CHIT1 concentration was significantly elevated in mitochondriopathies compared to healthy controls and other NMDs. CHIT1 was identified as a potential complementary biomarker in mitochondriopathies.
Source: link.springer.com/article/10.1007/s00415-025-12916-5
