Abstract
Glycosaminoglycans (GAGs) are present in proteoglycans, which play critical physiological roles in various tissues. They are known to be elevated in mucopolysaccharidoses (MPS), a group of rare inherited metabolic diseases in which the lysosomal enzyme required to break down one or more GAG is deficient. In a previous study, we found elevation of GAGs in a subset of patients without MPS. In the current study, we aim to investigate serum GAG levels in patients with conditions beyond MPS. In our investigated samples, the largest group of patients had a clinical diagnosis of viral or non-viral encephalopathy. Clinical diagnoses and conditions also included epilepsy, fatty acid metabolism disorders, respiratory and renal disorders, liver disorders, hypoglycemia, developmental disorders, hyperCKemia, myopathy, acidosis, and vomiting disorders. While there was no conclusive evidence across all ages for any disease, serum GAG levels were elevated in patients with encephalopathy and some patients with other conditions. These preliminary findings suggest that serum GAGs are potential biomarkers in MPS and other disorders. In conclusion, we propose that GAGs elevated in blood can be used as biomarkers in the diagnosis and prognosis of various diseases in childhood; however, further designed experiments with larger sample sizes are required.
Highlights
In the human body, carbohydrates exist as GAGs: sulfated polysaccharide chains
Twenty-two patients were clinically diagnosed with respiratory or renal conditions, 21 patients were diagnosed with some sort of fatty acid metabolism disorder, 7 patients were diagnosed with viral infections without encephalopathy or other symptoms, 13 patients were diagnosed with vomiting disorders, 18 patients were diagnosed with liver disorders, 33 patients were diagnosed with epilepsy, 22 patients were diagnosed with hypoglycemia, 12 patients were diagnosed with myopathy, 14 patients were diagnosed with developmental disorders, 12 patients were diagnosed with hyperCKemia, patients were diagnosed with a heart condition, patients were diagnosed with acidosis, 51 patients were diagnosed with viral encephalopathy, and 69 patients were diagnosed with non-viral encephalopathy
Viral and non-viral encephalopathy are associated with elevated GAG levels
Summary
Carbohydrates exist as GAGs: sulfated polysaccharide chains These GAG chains attach to core proteins, forming proteoglycans (PGs), which have various functions, including cell signaling, stimulating growth and development, and extracellular matrix (ECM) hydration. The PGs of the lectican family, which contain mainly CS as well as KS [2], are the main constituents of the brain ECM These PGs bind with HA and link proteins in the brain ECM with neurons [3]. The main function of HA in the CNS is its structural role in forming the brain ECM, but it has been shown to bind to growth factors and cytokines. HS proteoglycans (HSPGs) constitute a significant component of the vascular basement membrane in brain [5] They bind with signaling molecules, preventing their degradation and creating storage pools. HSPGs form ternary complexes with signaling molecules and their receptors to promote signaling
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