Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.6.4 (chondroitinase)
 2,039 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The use of high-performance liquid chromatography for the quantification of glycosaminoglycan disaccharides has been hampered by the inability to isocratically resolve the chondroitinase digestion products 2-acetamido-2-deoxy-3-O-(beta-D-gluco-4-enepyranosyluronic acid)-D-glucose (delta Di-HA) and 2-acetamido-2-deoxy-3-O-(beta-D-gluco-4-enepyranosyluronic acid)-D-galactose (delta Di-OS). To overcome this limitation, we have developed a solvent system capable of resolving delta Di-HA, delta Di-OS, 2-acetamido-2-deoxy-3-O-(beta-D-gluco-4-enepyranosyluronic acid)-6-O-sulfo-D-galactose (delta Di-6S), and 2-acetamido-2-deoxy-3-O-(beta-D-gluco-4-enepyranosyluronic acid)-4-O-sulfo-D-galactose (delta Di-4S). Integrator responses were linear from 1 microgram down to 25 ng for delta Di-HA, delta Di-OS, and delta Di-4S and down to 100 ng for delta Di-6S. This method was used to examine changes in the content of urinary hyaluronic acid and chondroitin sulfates isolated from normal individuals and from patients with Lowe Syndrome, Werner Syndrome, and Hutchinson-Gilford Progeria Syndrome. We confirmed that the HPLC method gave results comparable to colorimetric methods.
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PMID:Analysis by high-performance liquid chromatography of hyaluronic acid and chondroitin sulfates. 309

Morquio A Syndrome (mucopolysaccharidosis IVA [MPS IVA]) is an inherited, autosomal recessive lysosomal storage disorder that occurs in ~1 in 200,000 to 300,000 live births.(1) (Online access http://www.elseviercme.com/559) Individuals with Morquio A Syndrome have mutations in the gene that encodes N-acetylgalactosamine-6-sulfate sulfatase (GALNS), an enzyme responsible for the metabolism of the glycosaminoglycans (GAGs) keratin sulfate and chondroitin-6-sulfate.(2-4) Reduced activity or lack of GALNS leads to cellular and tissue accumulation of these GAGs to result in progressive, multisystem dysfunction and impaired functional capacity.(5) Individuals with Morquio A Syndrome suffer from a broad spectrum of impairment, including a variety of widespread skeletal abnormalities, respiratory compromise, valvular heart disease, visual and auditory impairments, and dental abnormalities.(6-8) Cognition is not typically affected.(9) Morquio A Syndrome exhibits extensive allelic heterogeneity, which results in extensive clinical heterogeneity.(2-4) This educational intervention on the management of patients with Morquio A Syndrome provides updated information and guidelines concerning the early and accurate diagnosis as well as an earlier intervention to improve patient outcomes. The activity is based on a live satellite symposium conducted during the 2015 official ACMG Annual Clinical Genetics Meeting program. Recent advances in the science of enzyme replacement therapies have presented opportunities for pharmacological interventions that improve quality of life. Clinicians will be updated on the clinical trial data and practical solutions for applying newer therapeutics to daily practice. Strategies to manage cardiopulmonary comorbidities and recommendations for the ideal clinical care model will wrap up this informative and up-to-date review of Morquio A Syndrome. This CME activity is also available through the Website of Molecular Genetics and Metabolism. Click on the CME button in the navigation bar for full access. Or access: http://www.elseviercme.com/559.
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PMID:Implementing evidence-driven individualized treatment plans within Morquio A Syndrome. 2687 92