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Called Gaucher cellsNational Gaucher FoundationMutationsPhilippe GaucherResemble crumpled-up paperLipidGlucocerebroside accumulatesEnzyme replaceGlucosylceramideMutationDeficiencyAutosomal recessiveFabrySpleenLysosomalSplenicCharacteristicDisorderCellsAshkenazi JewishDiseasesTypeCarrierClinicalGeneChildhoodVariantsTreatmentActivityMouseWhiteNaturalIndividuals
Called Gaucher cells2
  • The macrophages that are affected by such a accumulation are called Gaucher cells. (tu-muenchen.de)
  • Therefore, the waste product accumulates in fibrils and turns into so called Gaucher cells (that resemble crumpled-up paper on light microscopy). (tu-muenchen.de)
National Gaucher Foundation1
  • According to National Gaucher Foundation (USA) nearly 1 person in 20,000 has Gaucher's disease. (tu-muenchen.de)
Mutations4
  • The Gaucher-causing mutations may have entered the Ashkenazi Jewish gene pool in the early Middle Ages (48-55 generations ago). (wikipedia.org)
  • The phenotype depends on the activity of the beta-glucosidase, which is determined by the different mutations. (tu-muenchen.de)
  • Patients with 1 copy of an N370S mutations plus another mutation almost certainly will have Gaucher disease type 1. (gaucherdiseaseplatform.org)
  • Gaucher disease is a rare, autosomal recessively inherited disorder caused by mutations of the GBA gene. (gaucherdiseaseplatform.org)
Philippe Gaucher2
  • The disease is named after the French physician Philippe Gaucher, who originally described it in 1882. (wikipedia.org)
  • The disease was first described in 1882 by a French doctor Philippe Gaucher, after whom it is named. (tu-muenchen.de)
Resemble crumpled-up paper1
  • The macrophages that clear these cells are unable to eliminate the waste product, which accumulates in fibrils, and turn into 'Gaucher cells', which appear on light microscopy to resemble crumpled-up paper. (wikipedia.org)
Lipid4
  • The glycolipid storage gives rise to the characteristic Gaucher cells, macrophages engorged with lipid with a crumpled-tissue-paper appearance and displaced nuclei. (medscape.com)
  • Abnormal lipid profiles are often associated with an altered metabolic phenotype in tumour cells, which is a hallmark of cancer. (crct-inserm.fr)
  • Selvom Farber påviste en stigning i lipider i sine tidlige biokemiske undersøgelser, blev det vigtigste lipid, der ophobes ved Farber sygdom (FD), dvs. (biomedicalhouse.com)
  • Data_Sheet_1.pdf (513K) GUID:?514B8128-1B6A-4BCF-ADFD-8945AF1CB772 Supplementary Body 4: Lipid deposition in cell types of Fabry and Gaucher illnesses. (clinical-research-informatics.com)
Glucocerebroside accumulates3
  • When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages (mononuclear leukocytes, which is often a target for intracellular parasites). (wikipedia.org)
  • In Gaucher disease, the enzyme is unable to function correctly and glucocerebroside accumulates. (wikipedia.org)
  • In GD, glucocerebroside accumulates in macrophage cells as the enzyme b-glucocerebrosidase (which is located within the lysosomes) fails to effectively break it down. (gaucherdiseaseplatform.org)
Enzyme replace2
  • Enzyme replacement therapy (ERT) is indicated for patients with type 1 and type 3 Gaucher disease who exhibit clinical signs and symptoms of the disease, including anemia, thrombocytopenia, skeletal disease, or visceromegaly. (medscape.com)
  • The oral glucosylceramide (glucocerebroside) synthase inhibitor eliglustat, approved by the FDA for treatment of Gaucher disease type 1 (GD1) in August 2014, has proven as effective as intravenous enzyme replacement therapy with imiglucerase. (medscape.com)
Glucosylceramide2
  • Gaucher's disease or Gaucher disease (/ɡoʊˈʃeɪ/) (GD) is a genetic disorder in which glucocerebroside (a sphingolipid, also known as glucosylceramide) accumulates in cells and certain organs. (wikipedia.org)
  • Macrophages which eliminate these cells cannot process glucosylceramide of the cell membranes. (tu-muenchen.de)
Mutation5
  • The molecular characterization involved patients' initial screening for the common Gaucher mutation (Leu444Pro). (biomedcentral.com)
  • The population screening for common Gaucher disease mutation (Leu444Pro) was executed in 1200 unrelated and healthy Indian subjects by Restriction Fragment Length Polymorphism-Polymerase Chain Reaction technique. (biomedcentral.com)
  • The cause of Gaucher disease is a recessive mutation in a houskeeping gene lysosomal glucocerebrosidase (beta-glucosidase, glucosylceramidase) on chromosome 1 (1q21). (tu-muenchen.de)
  • Having 2 copies of the L444P mutation causes neurological symptoms and is related to Gaucher disease types 2 and 3. (gaucherdiseaseplatform.org)
  • Patients with 2 copies of the N370S mutation may have a milder form of Gaucher disease than people with just one N370S copy plus another mutation. (gaucherdiseaseplatform.org)
Deficiency2
  • Gaucher disease is the most common lysosomal storage disease, due to the hereditary deficiency of glucosylceramidase. (cap.org)
  • Deficiency of lysosomal acid lipase causes two distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). (bredagenetics.com)
Autosomal recessive2
  • Gaucher disease (GD, OMIM#230800) is a rare autosomal recessive Lysosomal storage disorder (LSDs) which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside in lysosomes [ 1 ]. (biomedcentral.com)
  • Gaucher Disease (GD) is a rare, inherited, autosomal recessive genetic disease affecting around 1 in 50,000 to 1 in 100,000 people in the general population. (gaucherdiseaseplatform.org)
Fabry4
  • The Rare Disease Registries (RDR) (for Gaucher, Fabry, Mucopolysaccharidosis type I, and Pompe), represent the largest observational database for these LSDs. (biomedcentral.com)
  • A) Mo-DCs from Fabry, Gaucher, NPC, and MPS-VI disease patients and control topics were packed with 5 g/mL of GM1 and co-cultured using the Compact disc1b-restricted T cell clone GG33A. (clinical-research-informatics.com)
  • A) Mo-DCs from Fabry, Gaucher, NPC, and MPS-VI disease sufferers and control topics were packed with 50 ng/mL of -GalCer and co-cultured using the iNKT cell clone JS63. (clinical-research-informatics.com)
  • B) Mo-DCs from Fabry and Gaucher disease sufferers and control topics were packed with 10 g/mL of sulfatide and co-cultured with the sort II NKT cell clone s33d. (clinical-research-informatics.com)
Spleen3
  • The spleen is infiltrated by macrophages with engorged cytoplasm, which has a 'crinkled tissue paper' appearance-due to accumulation of glucocerebroside. (cap.org)
  • THE BLOOD-SPLEEN-BARRIER The blood-spleen-barrier (BSB) is usually a barrier composed of macrophages and endothelial cells of the marginal sinus. (insulin-receptor.info)
  • As compared to the normal spleen, the density of macrophages in the portal hypertension (PH) spleen was decreased, but the macrophages were mainly located in the marginal zone and AUY922 (Luminespib, NVP-AUY922) distributed around the splenic corpuscle, with many villi and pseudopodium-like protrusions around the cell surface. (insulin-receptor.info)
Lysosomal3
  • In addition to his clinical work, Dr. Mistry is director of the Yale Lysosomal Disease Center and the internationally recognized Gaucher Disease Treatment Center. (yalemedicine.org)
  • Acid ceramidase (ACDase) -mangel er et spektrum af forstyrrelser, der inkluderer en sjælden lysosomal opbevaringsforstyrrelse kaldet Farber sygdom (FD) og en sjælden epileptisk lidelse kaldet spinal muskelatrofi med progressiv myoklonisk epilepsi (SMA-PME). (biomedicalhouse.com)
  • OMIM # 228000), også kendt som Farbers lipogranulomatosis, er en ultralystøs lysosomal opbevaringsforstyrrelse (LSD). (biomedicalhouse.com)
Splenic1
  • Gaucher disease), splenic enlargement can be caused by diseases such as PH, lymphoma and leukemia. (insulin-receptor.info)
Characteristic1
Disorder3
  • Gaucher disease is a rare genetic disorder characterized by the deposition of glucocerebroside in cells of the macrophage-monocyte system. (medscape.com)
  • He has a particular interest in Gaucher disease, an inherited disorder in which fatty substances build up in certain organs. (yalemedicine.org)
  • Gaucher disease is a rare pan-ethnic disorder which occurs due to an increased accumulation of undegraded glycolipid glucocerebroside inside the cells' lysosomes. (biomedcentral.com)
Cells10
  • Progressive infiltration of Gaucher cells in the bone marrow may lead to thinning of the cortex, pathologic fractures, bone pain, bony infarcts, and osteopenia. (medscape.com)
  • Old or other disused red/white blood cells are processed in the macrophages. (tu-muenchen.de)
  • As macrophages are not able to process the fatty acids of the cell membranes, they cannot eliminate the waste products of the blood cells and the glucosylceramid accumulates. (tu-muenchen.de)
  • Cholesteryl Ester Storage Disease (CESD) is at the milder end of disease variability, it is later-onset and presents with primary hepatic involvement by foam cells (macrophages engorged with cholesteryl esters). (bredagenetics.com)
  • The cells are then known as Gaucher cells and these cells can accumulate within various tissues of the body, leading to the variety of signs and symptoms which can present. (gaucherdiseaseplatform.org)
  • B) Harringtonin Gaucher disease cell model: C1R cells treated with CBE 1 mM or neglected cells had been lysed by sonication. (clinical-research-informatics.com)
  • These data are the first evidence that chronic exposure to ceramide and its metabolites enhances expression of the MDR phenotype in cancer cells. (sphingolipidclub.com)
  • IL-2 stimulates the proliferation of B cells, augments natural killer cell activity, and inhibits granulocyte macrophage colony formation. (thermofisher.com)
  • Here, the cells of the barrier can trap circulating infectious organisms and monocytes on their cell surfaces, clearing them from the blood and providing a selective environment for monocyte differentiation into macrophages and subsequent phagocytosis of the microorganisms. (insulin-receptor.info)
  • Thus, the functions of the BSB are to filter antigens, to keep the microenvironment of the white pulp stable, and to present antigen information to white pulp through the effects of the mechanical barrier, which depends on the connection between cells and the phagocytosis of macrophages. (insulin-receptor.info)
Ashkenazi Jewish2
  • Type 1 Gaucher disease is more common among individuals with Ashkenazi Jewish heritage, although all types are panethnic in their distribution. (medscape.com)
  • Type 1 Gaucher disease is more common among individuals of Ashkenazi Jewish descent, although all 3 types are panethnic in their distribution. (medscape.com)
Diseases2
  • Rare diseases typically demonstrate heterogeneous disease manifestations, complex natural history, and variable genotype/phenotype correlations. (biomedcentral.com)
  • Moreover, a study in USA showed that among 1525 Gaucher patients the diseases non-Hodgkin lymphoma, melanoma and pancreatic cancer occurred at a 2-3 times higher rate. (tu-muenchen.de)
Type4
  • Substrate reduction therapy (SRT) is an alternative treatment for appropriate adult patients with type 1 Gaucher disease. (medscape.com)
  • About one in 100 people in the United States are carriers of the most common type of Gaucher disease. (wikipedia.org)
  • Most children with this type of Gaucher won't reach the age of five. (tu-muenchen.de)
  • No specific treatment for Type 2 Gaucher disease is available. (gaucherdiseaseplatform.org)
Carrier1
  • The given study is the first report on the carrier frequency of the Leu444Pro mutant allele in an Indian population which will help understanding the burden and susceptibility of Gaucher disease to affect next generation in India. (biomedcentral.com)
Clinical1
  • Thirty years ago, it was recognized that there was a very limited understanding of the full clinical spectrum and natural history of rare LSDs, such as Gaucher disease (GD). (biomedcentral.com)
Gene1
  • rAAV1 vectors have a similar capsid sequence and were successfully applied in systemic gene delivery to vital muscles of DMD and CMD mouse models and efficiently ameliorated the dystrophic phenotype (Qiao et al. (justia.com)
Childhood2
  • some patients present in childhood with virtually all the complications of Gaucher disease, whereas others remain asymptomatic into the eighth decade of life. (medscape.com)
  • Patients with a classic phenotype usually present in childhood as a multisystemic disease. (bvsalud.org)
Variants1
  • This study uncovers two missense variants (Ala448Thr and Val17Gly) not previously reported in Gaucher disease patients. (biomedcentral.com)
Treatment1
  • In three other studies, eliglustat was superior to placebo over nine months of treatment, outcomes were similar for patients treated with eliglustat or imiglucerase for 4 years, and outcomes of eliglustat treatment were similar when dosing regimens were determined based on CYP2D6-genotype-predicted phenotype or plasma eliglustat concentrations. (medscape.com)
Activity1
  • Also, an elevated level of plasma Chitotriosidase activity in five patients supported their diagnosis of Gaucher disease. (biomedcentral.com)
Mouse1
  • Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes. (mousephenotype.org)
White1
Natural1
  • The ICGG Gaucher Registry (ClinicalTrials.gov ID NCT00358943, 1991) was initiated in response to regulatory commitments to establish a patient base to collect real-world data (RWD) to generate real-world evidence (RWE) for effectiveness and safety of ERT, as well as assessing the natural history of the disease. (biomedcentral.com)
Individuals1
  • Affected individuals are best described as having either a phenotype consistent with either severe (Hurler syndrome) or attenuated MPS I, a distinction that influences therapeutic options. (nih.gov)