Study Reveals Minimally Invasive Tool to Identify Biomarkers in Sanfilippo Syndrome

Analyzing small molecules produced by cells in the blood of Sanfilippo syndrome patients can be used as a minimally invasive tool for biomarker assessment, to help diagnose and assess therapeutic options for these patients.

Those findings are in the study “Serum global metabolomics profiling reveals profound metabolic impairments in patients with MPS IIIA and MPS IIIB,” which was published in the journal Metaboloic Brain Disease.

Although main disease features and pathological events that contribute to the pathology of mucopolysaccharidosis type 3 disorders (also known as Sanfilippo syndrome) have been described, the details of the underlying disease mechanisms are still unknown.

Moreover, there are no accessible biomarkers that can be used for the assessment of some therapies that are currently emerging to treat patients.

Metabolomics, or assessing the unique chemical fingerprints that certain cellular processes leave behind, is  gaining acceptance as an effective method that can be used in diagnostics.

The metabolomic profile, or the information that results from metabolomics, represents the collection of all small products in a cell and can give an instantaneous snapshot of the physiology of that cell.

Ohio State University researchers used a metabolomics approach in patients with MPS IIIA and IIIB to identify a metabolomic profile for MPS disorders.

The study involved the analysis of blood serum samples from patients with MPS IIIA (15 patients), MPS IIIB (10 patients) and healthy controls (23 individuals). The team was able to identify and quantify 658 compounds (metabolites) in the samples.

The levels of 423 metabolites were significantly different between MPS III patients and healthy controls. Of those, 366 were present in lower amounts, and 57 in higher amounts in MPS III patients.

Further analysis showed that altered metabolites were involved in a variety of pathways, including those responsible for the metabolism of  amino acids, carbohydrates, lipids, nucleotides, energy and vitamins. The identity of the metabolites also revealed that MPS III is associated with inflammation and a state of oxidative stress.

These findings demonstrate that metabolomic profiling can provide insights into the molecular mechanisms underlying MPS III disorders and that it can be used to find biomarkers for the disease, helping with diagnosis and assessment of therapeutic approaches.

“MPS III involves reduced function in virtually all metabolism pathways, possibly involving absorption, transport and biosynthesis,” researchers wrote. “Serum global metabolomics profiling may provide an important and minimally invasive tool for better understanding the disease mechanisms and identification of potential biomarkers for MPS III.”

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