Metabolic Consequences of Cystathionine β-Synthase Deficiency: A Multi-Omics Study
2025-06-05

This study investigates the metabolic consequences of cystathionine β-synthase (CBS) deficiency using both mouse models and human samples. Researchers generated CBS knockout mice through gene editing and performed extensive multi-omics analyses, including RNA sequencing, metabolomics, and lipidomics. Results revealed that CBS deficiency leads to metabolic issues such as glucose intolerance, altered adipose tissue composition, and energy metabolic dysfunction in mice. Human sample analysis further corroborated the association between CBS deficiency and metabolic diseases. This research provides crucial insights into CBS's role in metabolic regulation and potential therapeutic strategies for related metabolic disorders.