Tapping metabolomics for timely detection of glaucoma cases

Key Takeaways

• Differences in the levels of small molecules called metabolites have been identified in glaucoma patients vs healthy people.
• The discovery of these differences may one day lead to new diagnostic tests and therapies for glaucoma.

The number of individuals worldwide who are affected by glaucoma and who will be in the future is burgeoning. The current push is to identify biomarkers, biological molecules found in blood, other body fluids, or tissues that would enable earlier diagnosis, help determine those at higher risk of progression and provide new therapeutic targets, according to Neeru Vallabh, PhD, clinical senior lecturer at the University of Liverpool. “The current diagnostic challenges are the asymptomatic nature of glaucoma and the limitations of the traditional diagnostic methods,” Vallabh said. “While genetic studies have been hugely successful in improving our understanding of the disease, the mechanisms through which genetic factors interact with nongenetic factors and lead to glaucoma are not well understood.”

Metabolomics is the qualitative and quantitative analysis of low-molecular-weight small molecules, such as amino acids, carbohydrates, nucleosides/nucleotides, tricarboxylic acid, intermediates, and lipids.  The human metabolome, defined as the complete set of small molecule substances, is now thought to contain more than 110,000 metabolites, but many have yet to be identified. Metabolomics, Vallabh explained, reflects the physiological or pathological state of a cell or tissue; provides information about interactions between genetics, environment, and lifestyle; and is closely related to the phenotype in multifactorial disease. Therefore, metabolomics may be key for the transition from reactive medicine to predictive, preventive, and personalized medicine.

Vallabh reviewed several studies that suggest that in patients with open-angle glaucoma, certain metabolites have a higher frequency. She explained that metabolic alterations in glaucoma include amino acid dysregulation, and changes in vitamin metabolism, fatty acid oxidation, and glutaminolysis (a pathway responsible for generating cellular energy from glutamine). “We hope to apply the findings of these changes in metabolites to clinical application,” Vallabh concluded. “This is being helped by the development of metabolites databases to register these changes. The hope…is that these metabolite changes may provide novel therapeutic targets.”

Edited by Miriam Kaplan, PhD

Source:

Lynda Charters, Ophthalmology Times, September 11, 2024; see source article