Virtual event

Virtual event

Targeted metabolomics in clinical applications

Targeted metabolomic analysis in Tg‐I278T cystathionine b-synthetase deficient mice.

Teodoro Bottiglieri, Ph.D.

Program Director
Institute of Metabolic Disease BaylorScott&White Research Institute

Metabolic biomarkers for the early detection of cancer cachexia

Thomas M. O'Connell, Ph.D.

Associate Professor
Indiana Center for Musculoskeletal Health Indiana University School of Medicine

October 15th, 2020; 10:00 EST

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Targeted metabolomic analysis in Tg‐I278T cystathionine b-synthetase deficient mice.

Cystathionine b-synthase (CBS) deficiency caused by mutations in the CBS gene is the most common cause of hyperhomocysteinemia (HHcy). If left untreated plasma total homocysteine levels increase 10 to 20-fold, affecting methionine metabolism, methylation and transsulfuration pathways. This is associated with various pathologies including dislocated lenses, thrombosis, osteoporosis and complications of the central nervous system. The transgenic humanized CBS (I278T) mouse model recapitulates the phenotypic expression in human CBS deficiency.

Targeted metabolomic analysis using the Quant 500 platform showed differential expression of metabolites between plasma, liver and brain tissue in the Cbs-/- Tg-I278T hCBS mouse model. HHcy appears to significantly affect numerous lipid species. This analysis will be useful in understanding the underlying pathogenic mechanisms involved in both murine models and human CBS deficiency.

Metabolic biomarkers for the early detection of cancer cachexia

Cancer cachexia is a severe metabolic disorder associated with many types of cancer that is characterized by progressive weight loss along with a dramatic loss in skeletal muscle and adipose tissue. In the later stages of cachexia, many patients are no longer responsive to therapeutic interventions so is critical to detect cachexia as early as possible.

In this study we applied a multi-platform metabolomics approach in a murine model of cachexia to search for early biomarkers. Alterations in a set of amino acids, acylcarnitines and lipoproteins were found to be altered well in advance of the detectable loss of body weight or skeletal muscle. Validation of these results in other models of cachexia and in clinical studies will pave the way for a clinical diagnostic panel for the early detection of cachexia.

For research use only | not for use in diagnostic procedures