Multi-omics is the layering of genetic information (genomics) with laboratory biomarker results (metabolomics) to understand the root cause of disease and risk. This educational series focuses on genetic variants in specific enzymes and explains how to evaluate the systemic effects.

Today’s episode revolves around the enzyme cystathionine-beta-synthase (CBS). This enzyme is important for homocysteine metabolism, sitting at a branch point between two important cycles: methylation and transsulfuration. The action of this enzyme is important for balancing the critical functions of methylation with the creation of glutathione and energy. Listen to understand why this enzyme is important and what a genetic variant in CBS might mean for you and your patients.

Today on The Lab Report:

• 2:20 Reminder of what we mean by multi-omics
• 4:50 Introducing the CBS enzyme and the sink drain metaphor
• 7:40 The genetics of CBS – the silent mutation – and its potential effects
• 12:40 Better Know A Biomarker:  Cystathionine!
• 16:20 Activators and inhibitors of CBS and its effects on other biomarkers
• 18:55 Question of the Day: 
  • Does a CBS SNP cause elevated ammonia levels?
• 21:40 Evaluating surrounding biomarkers and how do you treat this SNP?

Additional Resources:

Methylation Panel

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