Metabolomics study of osteopetrosis caused by <i>CLCN7</i> mutation reveals novel pathway and potential biomarkers.

ABSTRACT:

Objective

CLCN7 mutation caused abnormal osteoclasts, resulting in osteopetrosis. Depending on the type of mutation, CLCN7 mutations can lead to severe or relatively benign forms of osteopetrosis. However, the serum metabolic alterations in osteopetrosis caused by CLCN7 mutation are still unknown. We aimed to investigate the differences in the metabolome of osteopetrosis patients caused by CLCN7 mutation versus healthy controls (HC), uncovering potential subtype diagnosis biomarkers.

Methods

19 osteopetrosis patients caused by CLCN7 mutation and 19 HC were recruited for liquid chromatography-tandem mass spectrometry analysis. The screened pathway was validated in the myeloid cell specific Clcn7^G763R mutant mouse model by q

SUBMITTER: Chen X 

PROVIDER: S-EPMC11865745 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature