biostudies-literatureUnknown15Chen X<h4>Objective</h4><i>CLCN7</i> mutation caused abnormal osteoclasts, resulting in osteopetrosis. Depending on the type of mutation, <i>CLCN7</i> mutations can lead to severe or relatively benign forms of osteopetrosis. However, the serum metabolic alterations in osteopetrosis caused by <i>CLCN7</i> mutation are still unknown. We aimed to investigate the differences in the metabolome of osteopetrosis patients caused by <i>CLCN7</i> mutation versus healthy controls (HC), uncovering potential subtype diagnosis biomarkers.<h4>Methods</h4>19 osteopetrosis patients caused by <i>CLCN7</i> mutation and 19 HC were recruited for liquid chromatography-tandem mass spectrometry analysis. The screened pathway was validated in the myeloid cell specific <i>Clcn7^G763R</i> mutant mouse model by qFrontiers in endocrinology1418932https://www.ebi.ac.uk/biostudies/studies/S-EPMC11865745biostudies-literatureMetabolomics study of osteopetrosis caused by &lt;i&gt;CLCN7&lt;/i&gt; mutation reveals novel pathway and potential biomarkers.PMC11865745Zhang ZWang CHu WFu WGu JChen XWei ZWang ZYu XfalseMetabolomics study of osteopetrosis caused by &lt;i&gt;CLCN7&lt;/i&gt; mutation reveals novel pathway and potential biomarkers.<h4>Objective</h4><i>CLCN7</i> mutation caused abnormal osteoclasts, resulting in osteopetrosis. Depending on the type of mutation, <i>CLCN7</i> mutations can lead to severe or relatively benign forms of osteopetrosis. However, the serum metabolic alterations in osteopetrosis caused by <i>CLCN7</i> mutation are still unknown. We aimed to investigate the differences in the metabolome of osteopetrosis patients caused by <i>CLCN7</i> mutation versus healthy controls (HC), uncovering potential subtype diagnosis biomarkers.<h4>Methods</h4>19 osteopetrosis patients caused by <i>CLCN7</i> mutation and 19 HC were recruited for liquid chromatography-tandem mass spectrometry analysis. The screened pathway was validated in the myeloid cell specific <i>Clcn7^G763R</i> mutant mouse model by q2024-01-01T00:00:00Z20242026-04-08T19:45:19.543Z2025-04-04T01:11:45.894ZS-EPMC118657454001837110.3389/fendo.2024.1418932