• Progressive accumulation of glycosaminoglycans (GAGs) in organs and tissues leads to the development of multisystem clinical manifestations. (nih.gov)
  • This results in the accumulation of glycosaminoglycans (GAGs) in various types of cells which eventually progresses to cellular damage. (wisdompanel.com)
  • Importantly, cell-associated and tumor microenvironment glycosaminoglycans (GAGs)/proteoglycan (PG) content and distribution are markedly altered during tumor pathogenesis and progression. (hindawi.com)
  • Free glycosaminoglycans (GAGs) and proteoglycan- (PG-) containing GAGs, key effectors of cell surface, pericellular and extracellular microenvironments, perform multiple functions in cancer by virtue of their coded structure and their ability to interact with both ligands and receptors that regulate cancer growth [ 1 - 4 ]. (hindawi.com)
  • Glycosaminoglycans (GAGs) comprise a class of linear, negatively charged polysaccharides composed of repeating disaccharide units of acetylated hexosamines (N-acetyl-galactosamine in the case of chondroitin sulphate and dermatan sulfate or N-acetyl-glucosamine in the case of heparin sulphate and heparin) and mainly of uronic acids (d-glucuronic acid or l-iduronic acid) being sulfated at various positions. (hindawi.com)
  • Glycosaminoglycans (GAGs) are essential functional components of the extracellular matrix (ECM). (degruyter.com)
  • Glycosaminoglycans (GAGs) are multifunctional polysaccharides of the extracellular matrix (ECM) responsible for ECM hydration and binding of cations and proteins due to their negative charge. (degruyter.com)
  • These complex carbohydrates, also known as mucopolysaccharides or glycosaminoglycans (GAGs), serve as the building blocks for connective tissues in the body. (medscape.com)
  • Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). (medlineplus.gov)
  • The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes . (medlineplus.gov)
  • The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder. (medlineplus.gov)
  • Activation of fibroblasts leads to excessive production and accumulation of glycosaminoglycans (GAGs), including hyaluronic acid, in the dermis and subcutis, and thus greater osmotic pressure. (logicalimages.com)
  • Discover which therapies are expected to grab the major mucopolysaccharidosis market share @ Mucopolysaccharidosis Market Report Mucopolysaccharidosis Overview Mucopolysaccharidosis (MPS) refers to a group of inherited metabolic disorders characterized by the accumulation of glycosaminoglycans (GAGs) within cells throughout the body. (cbinsights.com)
  • However, in individuals with MPS, the body lacks specific enzymes necessary to break down GAGs, leading to their accumulation and subsequent damage to various tissues and organs. (cbinsights.com)
  • During postnatal heart valve development, glycosaminoglycan (GAG)-rich valve primordia transform into stratified valve leaflets composed of GAGs, fibrillar collagen , and elastin layers accompanied by decreased cell proliferation as well as thinning and elongation. (bvsalud.org)
  • The MPSs are caused by a deficiency of lysosomal enzymes required for the degradation of mucopolysaccharides or glycosaminoglycans (GAGs). (medscape.com)
  • Glycosaminoglycans (GAGs) are oligosaccharide components of proteoglycans (macromolecules that provide structural integrity and function to connective tissues). (medscape.com)
  • The chronic progressive course is caused by the accumulation of partially degraded GAGs, with resulting thickening of tissue and compromising of cell and organ function over time. (medscape.com)
  • Deficiency of this enzyme results in the accumulation of complex sugars known as glycosaminoglycans (GAGs). (medicalhomeportal.org)
  • The resulting accumulation of GAGs in the lysosomes leads to progressive, multi-system organ damage. (medicalhomeportal.org)
  • Glycosaminoglycans (GAGs) are linear mucopolysaccharides with repeating disaccharide units. (biomedcentral.com)
  • The accumulation of GAGs in these tissues leads to progressive damage in cartilage that in turn reduces bone growth by destruction of the growth plate, incomplete ossification, and imbalance of growth. (nih.gov)
  • Affected dogs have insufficient activity of the Enzyme beta-glucuronidase, which is responsible for breaking down glycosaminoglycans (GAGs). (pawprintgenetics.com)
  • MPSs are caused by inherited defects in lysosomal enzymes resulting in widespread intra- and extra-cellular accumulation of glycosaminoglycans (GAGs). (eyewiki.org)
  • They are characterized by a reduction in the activity of specific lysosomal enzymes involved in the breakdown and catabolism of GAGs, with progressive accumulation within the lysosome. (eyewiki.org)
  • We have studied the synthesis and secretion of sulfated glycosaminoglycans (GAGs) by the two cell types under control conditions and ß-D-xyloside-stimulated conditions, that stimulate the ability to synthesize and release GAGs. (embrapa.br)
  • This mutation causes a deficiency in the enzyme, which results in the accumulation of complex sugars called glycosaminoglycans (GAGs) in various tissues throughout the body. (ineedmedic.com)
  • Organ enlargement: The accumulation of GAGs in various organs can cause them to become enlarged, including the liver, spleen, and heart. (ineedmedic.com)
  • Breathing difficulties: The accumulation of GAGs in the tissues of the throat and airways can cause breathing difficulties, including sleep apnea. (ineedmedic.com)
  • This can help improve the production of the enzyme and reduce the accumulation of GAGs in the body. (ineedmedic.com)
  • We quantitatively and structurally characterize primary stored HS and other glycosaminoglycans (GAGs) possibly accumulated through a secondary storage in brain, liver, kidney and lung of MPS IIIA mouse model. (unimore.it)
  • Amyloidosis depots contain not only the major fibrillar component but also minor nonfibrillar components such as glycosaminoglycans (GAGs), apolipoprotein E (apoE), and serum amyloid P (SAP) components [ 3 ]. (hyperthermicwellness.com)
  • The clinical features of Sanfilippo syndrome, including the significant CNS component (brain and spinal cord), result from the progressive lysosomal accumulation of the GAG heparan sulfate. (medscape.com)
  • Iduronate sulfatase deficiency leads to the subsequent GAG accumulation of heparan sulfate and chondroitin sulfate B (dermatan sulfate) in the body. (medscape.com)
  • Mucopolysaccharidosis (MPS) involves defective activity of the lysosomal enzymes, which blocks degradation of mucopolysaccharides and leads to abnormal accumulation of heparan sulfate, dermatan sulfate, and keratan sulfate. (medscape.com)
  • Mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo A) is a neurodegenerative lysosomal storage disorder caused by the deficiency of sulphamidase enzyme (SGSH) leading to accumulation of heparan sulfate (HS). (unimore.it)
  • Sanfilippo Type A occurs because of various mutations of the gene that codifies sulfamidase, a lysosomal enzyme that degrades the glycosaminoglycan (GAG) heparan sulfate. (curesanfilippofoundation.org)
  • Several health problems are caused by the accumulation of these sugar molecules (mucopolysaccharides or glycosaminoglycans) in the heart, skeleton, eyes, joints, respiratory system, ears, and skin. (lysosomalcenter.org)
  • This impairment causes aberrant accumulation of dermatan sulfate, a glycosaminoglycan (GAG) abundant in cartilage. (jci.org)
  • Accumulation of dermatan sulfate in heart valves may produce insufficiency or restriction of outflow. (arizona.edu)
  • The responsible mutations lie in ARSB (5q11-q13), the gene that encodes the enzyme arylsulfatase B. The phenotype results from defective dermatan sulfate breakdown with lysosomal accumulation. (arizona.edu)
  • MPS IIIA animals showed a huge accumulation of HS, from ~15 up to ~24-times higher than wild type and also of hyaluronic acid (HA) (from 2.5 up to ~5.0-times more) and chondroitin sulfate (CS)/dermatan sulfate (DS) (from ~2 up to ~5-times more) in all studied organs. (unimore.it)
  • To detect a genetic condition that leads to accumulation of thick mucus in different organs leading to severe chest infections and poor growth. (kkh.com.sg)
  • A ) GAG accumulation in peripheral organs in 18- to 19-week-old females. (jci.org)
  • The resulting accumulation of glycosaminoglycans in the cells of tissues and organs causes a wide range of symptoms that typically appear in early childhood and worsen over time. (globalgenes.org)
  • Literature review: mucopolysaccharidosis is an inherited metabolic disorder caused by innate errors of metabolism, which cause the deficiency of lysosomal enzymes that degrade glycosaminoglycans and cause their accumulation within different tissues and organs. (bvsalud.org)
  • Mucopolysaccharidoses are lysosomal storage disorders that are caused by a deficiency in the enzymes that degrade glycosaminoglycans. (omeka.net)
  • Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. (nih.gov)
  • An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA - L -FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS, GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. (dictionary.net)
  • GALNS deficiency causes a block in the sequential breakdown of glycosaminoglycans N-acetylgalactosamine-6-sulfatase (GALNS) Morquio A (MPS IVA) Morquio B (MPS IVB) -D-Galactosidase Neufeld, EF and Muenzer, J. The Mucopolysaccharidoses. (slideserve.com)
  • Olsson PO, Kalamajski S, Maccarana M, Oldberg Å, Rubin K. Fibromodulin deficiency reduces collagen structural network but not glycosaminoglycan content in a syngeneic model of colon carcinoma. (lu.se)
  • DESCRIPTION (provided by applicant): Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is an X-linked recessive inherited disorder caused by absence of iduronate-2-sulfatase, resulting in systemic accumulation of glycosaminoglycans heparan sulphate and dermatan sulphate. (sbir.gov)
  • Inhibition of iduronic acid biosynthesis by ebselen reduces glycosaminoglycan accumulation in mucopolysaccharidosis type I fibroblasts. (uu.se)
  • Mechanical stimulation led to a significant increase in chondrogenic gene expression, while histological analysis detected sulphated glycosaminoglycans and collagen II only in loaded specimens, confirming MC hydrogel suitability to support load induced MSCs chondrogenesis. (nature.com)
  • Glycosaminoglycan, CaG can strengthen ECM by increasing activity of TIMP-2 and adhesion activity on collagen known to inhibit changes of ECM, leading to tumor cell invasion and progression. (biomedcentral.com)
  • In affected dogs, there is an accumulation of breakdown products in cells causing abnormal growth and function of various organ systems. (pawprintgenetics.com)
  • MPS are inherited deficiencies of enzymes involved in glycosaminoglycan breakdown. (msdmanuals.com)
  • Enzyme deficiencies that prevent glycosaminoglycan breakdown cause accumulation of glycosaminoglycan fragments in lysosomes and cause extensive bone, soft tissue, and central nervous system changes. (msdmanuals.com)
  • Lack of these enzymes allows for the accumulation of complex carbohydrates in the body's cells and tissues and in the cellular organelles, the lysosomes. (medscape.com)
  • Inherited defects or deficiencies of lysosomal enzymes (or other lysosomal components) can result in accumulation of undegraded metabolites. (msdmanuals.com)
  • Without the proper enzymatic degradation of the mucopolysaccharides, clinical symptoms, such as auditory and visual defects, cardiovascular pathologies, hepatosplenomegaly, and dysostosis multiplex, occur due to their accumulation in organ systems. (medscape.com)
  • Neufeld et al, in the late 1960s, demonstrated that mucopolysaccharide accumulation in fibroblasts from patients with Hurler (MPS I) and Hunter (MPS II) syndromes could be corrected by co-culturing them with fibroblasts or tissue extracts from patients with a differently diagnosed MPSs. (medscape.com)
  • 2. An abnormal accumulation of mucopolysaccharides in the skin. (wordinfo.info)
  • This abnormal accumulation compromises cellular and organic functions, leading to a great number of progressive and multisystemic clinical manifestations. (bvsalud.org)
  • In those with slowly progressive disease, the CNS is not (or is minimally) affected, although the effect of GAG accumulation on other organ systems may be early progressive to the same degree as in those who have progressive cognitive decline. (nih.gov)
  • Some of the clinical manifestations of GAG accumulation include coarse facial features, corneal clouding, thickened skin, and organomegaly. (medscape.com)
  • Proteoglycans are complex macromolecules comprised of a core protein and one or more covalently attached glycosaminoglycans (GAG) chains so that structurally they are both proteins and carbohydrates. (openbiochemistryjournal.com)
  • This leads to an accumulation of secondary storages of misfolded proteins, including those that result in neurodegenerative disorders. (curesanfilippofoundation.org)
  • Targeting this glycosaminoglycan complex biomolecules might be a novel therapeutic strategy to treat disorders such as cancers, neurodegenerative diseases, and infections associated with receptor for advanced glycation end-products (RAGE) containing disaccharide units (CS-E) [ 2 ]. (biomedcentral.com)
  • By the mid 1960s, defects that led to the accumulation of metabolic products in the urine, blood, or neural tissues were identified. (medscape.com)
  • The objective of this study was to evaluate the anti-cancer effect of insect-derived polymer dung beetle glycosaminoglycan (GAG) after intraperitoneally injecting it to melanoma mice induced by B16F10 cells. (biomedcentral.com)
  • In addition, treatment with N-glycans derived from theses glycosaminoglycan increased activities of TIMP-2 in HMVEC cells pretreated with TNF-alpha and in melanoma cells, suggesting that they had anti-inflammatory and anticancer activities. (biomedcentral.com)
  • Chronic hypoxia also promotes GAG accumulation in murine adult heart valves in vivo. (bvsalud.org)
  • The nomenclature, enzyme defect, type of glycosaminoglycan, gene locus and inheritance pattern are distinguished in table 1. (eyewiki.org)
  • Proteoglycans are comprised of a core protein and one or more covalently attached glycosaminoglycan (GAG) chains. (openbiochemistryjournal.com)
  • Mice with induced melanoma were then treated with Catharsius molossus (dung beetle) GAG (CaG) at 5 mg/kg for 8 weeks to investigate its anti-cancer effects compared to bumblebee ( Bombus ignitus ) queen glycosaminoglycan (IQG) and Huechys sanguinea glycosaminoglycan (HEG). (biomedcentral.com)
  • Lead interferes with the synthesis of heme, resulting in accumulation of ALA in tissues and elevated excretion of ALA in urine, elevation of zinc protoporphyrin in erythrocyte, reductions in blood hemoglobin, and in a hypochromic, normocytic anemia at higher levels of exposure. (cdc.gov)