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[PMID]:28259515
[Au] Autor:Kuchar L; Sikora J; Gulinello ME; Poupetova H; Lugowska A; Malinova V; Jahnova H; Asfaw B; Ledvinova J
[Ad] Endereço:Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic. Electronic address: ladislav.kuchar@lf1.cuni.cz.
[Ti] Título:Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.
[So] Source:Anal Biochem;525:73-77, 2017 May 15.
[Is] ISSN:1096-0309
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Acid sphingomyelinase deficiency (ASMd, Niemann-Pick disease A/B) and Niemann-Pick type C disease (NPC) share core clinical symptoms. Initial diagnostic discrimination of these two rare lysosomal storage diseases is thus difficult. As sphingomyelin accumulates in ASMd as well as NPC, lysosphingomyelin (sphingosylphosphorylcholine) and its m/z 509 analog were suggested as biomarkers for both diseases. Herein we present results of simultaneous LC-ESI-MS/MS measurements of lysosphingomyelin and lysosphingomyelin 509 in plasma and dried blood spots (DBS) collected from ASMd and NPC patients and suggest that the plasma but not DBS levels of the two analytes allow differential biochemical screening of ASMd and NPC.
[Mh] Termos MeSH primário: Biomarcadores/sangue
Doença de Niemann-Pick Tipo A/sangue
Doença de Niemann-Pick Tipo B/sangue
Doença de Niemann-Pick Tipo C/sangue
Fosforilcolina/análogos & derivados
Esfingosina/análogos & derivados
[Mh] Termos MeSH secundário: Estudos de Casos e Controles
Cromatografia Líquida/métodos
Teste em Amostras de Sangue Seco/métodos
Seres Humanos
Doença de Niemann-Pick Tipo A/diagnóstico
Doença de Niemann-Pick Tipo B/diagnóstico
Doença de Niemann-Pick Tipo C/diagnóstico
Fosforilcolina/sangue
Espectrometria de Massas por Ionização por Electrospray/métodos
Esfingosina/sangue
Espectrometria de Massas em Tandem/métodos
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 10216-23-6 (sphingosine phosphorylcholine); 107-73-3 (Phosphorylcholine); NGZ37HRE42 (Sphingosine)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170508
[Lr] Data última revisão:
170508
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170306
[St] Status:MEDLINE


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[PMID]:27620840
[Au] Autor:Pérez-Cañamás A; Benvegnù S; Rueda CB; Rábano A; Satrústegui J; Ledesma MD
[Ad] Endereço:Centro Biología Molecular Severo Ochoa, CSIC-UAM, Madrid, Spain.
[Ti] Título:Sphingomyelin-induced inhibition of the plasma membrane calcium ATPase causes neurodegeneration in type A Niemann-Pick disease.
[So] Source:Mol Psychiatry;22(5):711-723, 2017 May.
[Is] ISSN:1476-5578
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Niemann-Pick disease type A (NPA) is a rare lysosomal storage disorder characterized by severe neurological alterations that leads to death in childhood. Loss-of-function mutations in the acid sphingomyelinase (ASM) gene cause NPA, and result in the accumulation of sphingomyelin (SM) in lysosomes and plasma membrane of neurons. Using ASM knockout (ASMko) mice as a NPA disease model, we investigated how high SM levels contribute to neural pathology in NPA. We found high levels of oxidative stress both in neurons from these mice and a NPA patient. Impaired activity of the plasma membrane calcium ATPase (PMCA) increases intracellular calcium. SM induces PMCA decreased activity, which causes oxidative stress. Incubating ASMko-cultured neurons in the histone deacetylase inhibitor, SAHA, restores PMCA activity and calcium homeostasis and, consequently, reduces the increased levels of oxidative stress. No recovery occurs when PMCA activity is pharmacologically impaired or genetically inhibited in vitro. Oral administration of SAHA prevents oxidative stress and neurodegeneration, and improves behavioral performance in ASMko mice. These results demonstrate a critical role for plasma membrane SM in neuronal calcium regulation. Thus, we identify changes in PMCA-triggered calcium homeostasis as an upstream mediator for NPA pathology. These findings can stimulate new approaches for pharmacological remediation in a disease with no current clinical treatments.
[Mh] Termos MeSH primário: Doença de Niemann-Pick Tipo A/metabolismo
Doença de Niemann-Pick Tipo A/patologia
ATPases Transportadoras de Cálcio da Membrana Plasmática/antagonistas & inibidores
Esfingomielinas/metabolismo
[Mh] Termos MeSH secundário: Animais
Encéfalo/metabolismo
Estudos de Casos e Controles
Membrana Celular/enzimologia
Membrana Celular/metabolismo
Pré-Escolar
Modelos Animais de Doenças
Seres Humanos
Lisossomos/metabolismo
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Knockout
Doenças Neurodegenerativas/enzimologia
Doenças Neurodegenerativas/metabolismo
Doenças Neurodegenerativas/patologia
Neurônios/enzimologia
Neurônios/metabolismo
Doença de Niemann-Pick Tipo A/enzimologia
Estresse Oxidativo/fisiologia
ATPases Transportadoras de Cálcio da Membrana Plasmática/metabolismo
Esfingomielina Fosfodiesterase/genética
Esfingomielina Fosfodiesterase/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Sphingomyelins); EC 3.1.4.- (acid sphingomyelinase-1); EC 3.1.4.12 (Sphingomyelin Phosphodiesterase); EC 3.6.3.8 (Plasma Membrane Calcium-Transporting ATPases)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170629
[Lr] Data última revisão:
170629
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160914
[St] Status:MEDLINE
[do] DOI:10.1038/mp.2016.148


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[PMID]:27491215
[Au] Autor:Schuchman EH; Wasserstein MP
[Ti] Título:Types A and B Niemann-Pick Disease.
[So] Source:Pediatr Endocrinol Rev;13 Suppl 1:674-81, 2016 Jun.
[Is] ISSN:1565-4753
[Cp] País de publicação:Israel
[La] Idioma:eng
[Ab] Resumo:Two distinct metabolic abnormalities are included under the eponym Niemann-Pick disease (NPD). The first is due to the deficient activity of the enzyme acid sphingomyelinase (ASM). Patients with ASM deficiency are classified as having types A and B Niemann-Pick disease (NPD). Type A NPD patients exhibit hepatosplenomegaly, frequent pulmonary infections, and profound central nervous system involvement in infancy. They rarely survive beyond two years of age. Type B patients also have hepatosplenomegaly and progressive alterations of their lungs, but there are usually no central nervous system signs. The age of onset and rate of disease progression varies greatly among type B patients, and they frequently live into adulthood. Recently, patients with phenotypes intermediate between types A and B NPD also have been identified. These individuals represent the expected continuum caused by inheriting different mutations in the ASM gene (SMPD1). Patients in the second category are designated as having type C NPD. Impaired intracellular trafficking of cholesterol causes type C NPD, and two distinct gene defects have been found. In this chapter only types A and B NPD will be discussed.
[Mh] Termos MeSH primário: Transplante de Medula Óssea
Terapia de Reposição de Enzimas
Terapia Genética
Doença de Niemann-Pick Tipo A/terapia
Doença de Niemann-Pick Tipo B/terapia
Esfingomielina Fosfodiesterase/uso terapêutico
[Mh] Termos MeSH secundário: Idade de Início
Animais
Doenças do Sistema Nervoso Central/fisiopatologia
Modelos Animais de Doenças
Progressão da Doença
Hepatomegalia
Seres Humanos
Pneumopatias/fisiopatologia
Mutação
Doença de Niemann-Pick Tipo A/genética
Doença de Niemann-Pick Tipo A/fisiopatologia
Doença de Niemann-Pick Tipo B/genética
Doença de Niemann-Pick Tipo B/fisiopatologia
Fenótipo
Esfingomielina Fosfodiesterase/genética
Esplenomegalia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 3.1.4.12 (Sphingomyelin Phosphodiesterase); EC 3.1.4.12 (sphingomyelin phosphodiesterase 1, human)
[Em] Mês de entrada:1608
[Cu] Atualização por classe:160805
[Lr] Data última revisão:
160805
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160806
[St] Status:MEDLINE


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[PMID]:27484861
[Au] Autor:Long Y; Xu M; Li R; Dai S; Beers J; Chen G; Soheilian F; Baxa U; Wang M; Marugan JJ; Muro S; Li Z; Brady R; Zheng W
[Ad] Endereço:National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA.
[Ti] Título:Induced Pluripotent Stem Cells for Disease Modeling and Evaluation of Therapeutics for Niemann-Pick Disease Type A.
[So] Source:Stem Cells Transl Med;5(12):1644-1655, 2016 12.
[Is] ISSN:2157-6564
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:: Niemann-Pick disease type A (NPA) is a lysosomal storage disease caused by mutations in the SMPD1 gene that encodes acid sphingomyelinase (ASM). Deficiency in ASM function results in lysosomal accumulation of sphingomyelin and neurodegeneration. Currently, there is no effective treatment for NPA. To accelerate drug discovery for treatment of NPA, we generated induced pluripotent stem cells from two patient dermal fibroblast lines and differentiated them into neural stem cells. The NPA neural stem cells exhibit a disease phenotype of lysosomal sphingomyelin accumulation and enlarged lysosomes. By using this disease model, we also evaluated three compounds that reportedly reduced lysosomal lipid accumulation in Niemann-Pick disease type C as well as enzyme replacement therapy with ASM. We found that α-tocopherol, δ-tocopherol, hydroxypropyl-ß-cyclodextrin, and ASM reduced sphingomyelin accumulation and enlarged lysosomes in NPA neural stem cells. Therefore, the NPA neural stem cells possess the characteristic NPA disease phenotype that can be ameliorated by tocopherols, cyclodextrin, and ASM. Our results demonstrate the efficacies of cyclodextrin and tocopherols in the NPA cell-based model. Our data also indicate that the NPA neural stem cells can be used as a new cell-based disease model for further study of disease pathophysiology and for high-throughput screening to identify new lead compounds for drug development. SIGNIFICANCE: Currently, there is no effective treatment for Niemann-Pick disease type A (NPA). To accelerate drug discovery for treatment of NPA, NPA-induced pluripotent stem cells were generated from patient dermal fibroblasts and differentiated into neural stem cells. By using the differentiated NPA neuronal cells as a cell-based disease model system, α-tocopherol, δ-tocopherol, and hydroxypropyl-ß-cyclodextrin significantly reduced sphingomyelin accumulation in these NPA neuronal cells. Therefore, this cell-based NPA model can be used for further study of disease pathophysiology and for high-throughput screening of compound libraries to identify lead compounds for drug development.
[Mh] Termos MeSH primário: Células-Tronco Pluripotentes Induzidas/citologia
Modelos Biológicos
Doença de Niemann-Pick Tipo A/patologia
Doença de Niemann-Pick Tipo A/terapia
[Mh] Termos MeSH secundário: 2-Hidroxipropil-beta-Ciclodextrina
Diferenciação Celular/efeitos dos fármacos
Linhagem Celular
Fibroblastos/efeitos dos fármacos
Fibroblastos/patologia
Fibroblastos/ultraestrutura
Seres Humanos
Células-Tronco Pluripotentes Induzidas/efeitos dos fármacos
Células-Tronco Pluripotentes Induzidas/ultraestrutura
Lisossomos/efeitos dos fármacos
Lisossomos/metabolismo
Lisossomos/ultraestrutura
Células-Tronco Neurais/efeitos dos fármacos
Células-Tronco Neurais/patologia
Células-Tronco Neurais/ultraestrutura
Esfingomielina Fosfodiesterase/metabolismo
Esfingomielinas/metabolismo
Tocoferóis/farmacologia
alfa-Tocoferol/farmacologia
beta-Ciclodextrinas/farmacologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Sphingomyelins); 0 (beta-Cyclodextrins); 1I96OHX6EK (2-Hydroxypropyl-beta-cyclodextrin); EC 3.1.4.12 (Sphingomyelin Phosphodiesterase); H4N855PNZ1 (alpha-Tocopherol); JU84X1II0N (delta-tocopherol); R0ZB2556P8 (Tocopherols)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160804
[St] Status:MEDLINE


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[PMID]:27340749
[Au] Autor:Thurberg BL; Wasserstein MP; Jones SA; Schiano TD; Cox GF; Puga AC
[Ad] Endereço:Departments of *Pathology †Clinical Development, Sanofi Genzyme, Cambridge ¶Division of Genetics, Children's Hospital Boston #Department of Pediatrics, Harvard Medical School, Boston, MA ‡Division of Pediatric Genetic Medicine, The Children's Hospital at Montefiore, Bronx ∥Division of Liver Diseases, Mount Sinai School of Medicine, NY, NY §Manchester Centre for Genomic Medicine, St Mary's Hospital, CMFT, University of Manchester, Manchester, UK.
[Ti] Título:Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency.
[So] Source:Am J Surg Pathol;40(9):1232-42, 2016 Sep.
[Is] ISSN:1532-0979
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Acid sphingomyelinase deficiency (ASMD; Niemann-Pick disease type A and B) is a lysosomal storage disorder characterized by abnormal intracellular sphingomyelin (SM) accumulation. Prominent liver involvement results in hepatomegaly, fibrosis/cirrhosis, abnormal liver chemistries, and a proatherogenic lipid profile. Olipudase alfa (recombinant human ASM) is in clinical development as an investigational enzyme replacement therapy for the non-neurological manifestations of ASMD. In a phase 1b study conducted to evaluate the safety and tolerability of within-patient dose escalation with olipudase alfa, measurement of SM levels in liver biopsies was used as a pharmacodynamic biomarker of substrate burden. Five adult patients with non neuronopathic ASMD received escalating doses of olipudase alfa every 2 weeks for 26 weeks. Liver biopsies obtained at baseline and 26 weeks after treatment were evaluated for SM storage by histomorphometric analysis, biochemistry, and electron microscopy. Biopsies were also assessed for inflammation and fibrosis, and for the association of SM levels with liver volume, liver function tests, and lipid profiles. At baseline, SM storage present in Kupffer cells and hepatocytes ranged from 9.8% to 53.8% of the microscopic field. After 26 weeks of treatment, statistically significant reductions in SM (P<0.0001) measured by morphometry were seen in 4 patients with evaluable liver biopsies. The 26-week biopsy of the fifth patient was insufficient for morphometric quantitation. Posttreatment SM levels ranged from 1.2% to 9.5% of the microscopic field, corresponding to an 84% to 92% relative reduction from baseline. Improvements in liver volume, liver function tests, and lipid profiles were also observed. This study illustrates the utility of SM assessment by liver biopsy as a pharmacodynamic biomarker of disease burden in these patients.
[Mh] Termos MeSH primário: Fígado/metabolismo
Doença de Niemann-Pick Tipo A/tratamento farmacológico
Doença de Niemann-Pick Tipo B/tratamento farmacológico
Proteínas Recombinantes/uso terapêutico
Esfingomielina Fosfodiesterase/uso terapêutico
Esfingomielinas/metabolismo
[Mh] Termos MeSH secundário: Adulto
Idoso
Relação Dose-Resposta a Droga
Feminino
Seres Humanos
Interpretação de Imagem Assistida por Computador
Imuno-Histoquímica
Fígado/efeitos dos fármacos
Fígado/patologia
Masculino
Microscopia Eletrônica de Transmissão
Meia-Idade
[Pt] Tipo de publicação:CLINICAL TRIAL, PHASE I; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Recombinant Proteins); 0 (Sphingomyelins); EC 3.1.4.12 (Sphingomyelin Phosphodiesterase); EC 3.1.4.12 (olipudase alfa)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170719
[Lr] Data última revisão:
170719
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160625
[St] Status:MEDLINE
[do] DOI:10.1097/PAS.0000000000000659


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[PMID]:27198631
[Au] Autor:Cassiman D; Packman S; Bembi B; Turkia HB; Al-Sayed M; Schiff M; Imrie J; Mabe P; Takahashi T; Mengel KE; Giugliani R; Cox GF
[Ad] Endereço:Metabolic Center, University of Leuven, Leuven, Belgium.
[Ti] Título:Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.
[So] Source:Mol Genet Metab;118(3):206-13, 2016 Jul.
[Is] ISSN:1096-7206
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Acid sphingomyelinase deficiency (ASMD), [Niemann-Pick Disease Types A and B (NPD A and B)], is an inherited metabolic disorder resulting from deficiency of the lysosomal enzyme acid sphingomyelinase. Accumulation of sphingomyelin in hepatocytes, reticuloendothelial cells, and in some cases neurons, results in a progressive multisystem disease that encompasses a broad clinical spectrum of neurological and visceral involvement, including: infantile neurovisceral ASMD (NPD A) that is uniformly fatal by 3years of age; chronic neurovisceral ASMD (intermediate NPD A/B; NPD B variant) that has later symptom onset and slower neurological and visceral disease progression; and chronic visceral ASMD (NPD B) that lacks neurological symptoms but has significant disease-related morbidities in multiple organ systems. The purpose of this study was to characterize disease-related morbidities and causes of death in patients with the chronic visceral and chronic neurovisceral forms of ASMD. METHODS: Data for 85 patients who had died or received liver transplant were collected by treating physicians (n=27), or abstracted from previously published case studies (n=58). Ages at symptom onset, diagnosis, and death; cause of death; organ involvement, and morbidity were analyzed. RESULTS: Common disease-related morbidities included splenomegaly (96.6%), hepatomegaly (91.4%), liver dysfunction (82.6%), and pulmonary disease (75.0%). The overall leading causes of death were respiratory failure and liver failure (27.7% each) irrespective of age. For patients with chronic neurovisceral ASMD (31.8%), progression of neurodegenerative disease was a leading cause of death along with respiratory disease (both 23.1%) and liver disease (19.2%). Patients with chronic neurovisceral disease died at younger ages than those with chronic visceral disease (median age at death 8 vs. 23.5years). CONCLUSIONS: The analysis emphasizes that treatment goals for patients with chronic visceral and chronic neurovisceral ASMD should include reducing splenomegaly and improving liver function and respiratory status, with the ultimate goal of decreasing serious morbidity and mortality.
[Mh] Termos MeSH primário: Doença de Niemann-Pick Tipo A/mortalidade
Doença de Niemann-Pick Tipo B/mortalidade
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idade de Início
Idoso
Causas de Morte
Criança
Pré-Escolar
Seres Humanos
Lactente
Recém-Nascido
Meia-Idade
Fatores de Risco
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170829
[Lr] Data última revisão:
170829
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160521
[St] Status:MEDLINE


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[PMID]:26851525
[Au] Autor:Ding Y; Li X; Liu Y; Hua Y; Song J; Wang L; Li M; Qin Y; Yang Y
[Ad] Endereço:Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
[Ti] Título:Seven novel mutations of the SMPD1 gene in four Chinese patients with Niemann-Pick disease type A and prenatal diagnosis for four fetuses.
[So] Source:Eur J Med Genet;59(4):263-8, 2016 Apr.
[Is] ISSN:1878-0849
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Niemann-Pick disease type A (NPD-A) is a rare autosomal recessive lysosomal storage disorder caused by acid sphingomyelinase deficiency. Only a few cases have been documented in mainland China, and prenatal diagnosis has not been performed to date. In this study, the clinical and laboratory features of four Chinese patients with early-onset NPD-A were summarized. METHODS: Four patients with NPD-A were the firstborns of non-consanguineous parents from four unrelated Chinese families. Bone marrow analysis, acid sphingomyelinase assay and genetic studies were performed. SMPD1 gene studies on amniocytes were performed for the prenatal diagnosis of four fetuses from three families. RESULTS: Four patients were admitted at the age of 1-10 months due to jaundice, hepatosplenomegaly and psychomotor retardation. Liver histopathological analysis revealed glucolipid accumulation. Massive foamy histiocytes were found in the bone marrow. Acid sphingomyelinase activities of peripheral blood leukocytes were significantly decreased (4.05-21.9 nmol/h/mg protein, normal range 216.1-950.9 nmol/h/mg protein). Seven novel mutations (c.518-519insT, c.562_563insC, c.792Gdel, c.949G>A, c.1487_1499delACCGTGTGTACCA, c.1495T>C and c.1670T>C) of the SMPD1 gene were identified in four patients. Only one fetus had two mutations of the SMPD1 gene of amniocytes. The results suggested that the fetus was affected by NPD-A. The mother chose artificial abortion. The other three fetuses were not affected by NPD-A. No mutation of the SMPD1 gene was detected in the cultured amniocytes from the mothers. Postnatal genetic analysis and normal development of the three infants confirmed the prenatal diagnosis. CONCLUSIONS: Seven novel mutations associated with NPD-A were identified in the Chinese population. Prenatal diagnosis for four fetuses of three families was successfully performed by amniocyte gene analysis.
[Mh] Termos MeSH primário: Hepatomegalia/genética
Doença de Niemann-Pick Tipo A/genética
Diagnóstico Pré-Natal
Esfingomielina Fosfodiesterase/genética
[Mh] Termos MeSH secundário: Amniocentese
China
Feminino
Hepatomegalia/fisiopatologia
Seres Humanos
Lactente
Masculino
Mutação
Doença de Niemann-Pick Tipo A/fisiopatologia
Gravidez
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 3.1.4.12 (Sphingomyelin Phosphodiesterase); EC 3.1.4.12 (sphingomyelin phosphodiesterase 1, human)
[Em] Mês de entrada:1612
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160207
[St] Status:MEDLINE


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[PMID]:26766671
[Au] Autor:Giannopoulou EZ; Furtwängler R; Bürger F; Schöndorf D; Gortner L; Meyer S
[Ti] Título:[In Process Citation].
[Ti] Título:Neue Mutation bei einem Säugling mit Niemann-Pick-Krankheit Typ A/B..
[So] Source:Klin Padiatr;228(1):47-8, 2016 Jan.
[Is] ISSN:1439-3824
[Cp] País de publicação:Germany
[La] Idioma:ger
[Mh] Termos MeSH primário: Aberrações Cromossômicas
Análise Mutacional de DNA
Mutação da Fase de Leitura/genética
Genes Recessivos/genética
Doença de Niemann-Pick Tipo A/diagnóstico
Doença de Niemann-Pick Tipo A/genética
Esfingomielina Fosfodiesterase/genética
[Mh] Termos MeSH secundário: Feminino
Triagem de Portadores Genéticos
Seres Humanos
Lactente
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.4.12 (Sphingomyelin Phosphodiesterase); EC 3.1.4.12 (sphingomyelin phosphodiesterase 1, human)
[Em] Mês de entrada:1612
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160115
[St] Status:MEDLINE
[do] DOI:10.1055/s-0035-1565239


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[PMID]:26499107
[Au] Autor:Zampieri S; Filocamo M; Pianta A; Lualdi S; Gort L; Coll MJ; Sinnott R; Geberhiwot T; Bembi B; Dardis A
[Ad] Endereço:Regional Coordinator Centre for Rare Diseases, University Hospital Santa Maria della Misericordia, Udine, Italy.
[Ti] Título:SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants.
[So] Source:Hum Mutat;37(2):139-47, 2016 Feb.
[Is] ISSN:1098-1004
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Niemann-Pick Types A and B (NPA/B) diseases are autosomal recessive lysosomal storage disorders caused by the deficient activity of acid sphingomyelinase (ASM) because of the mutations in the SMPD1 gene. Here, we provide a comprehensive updated review of already reported and newly identified SMPD1 variants. Among them, 185 have been found in NPA/B patients. Disease-causing variants are equally distributed along the SMPD1 gene; most of them are missense (65.4%) or frameshift (19%) mutations. The most frequently reported mutation worldwide is the p.R610del, clearly associated with an attenuated NP disease type B phenotype. The available information about the impact of 52 SMPD1 variants on ASM mRNA and/or enzymatic activity has been collected and whenever possible, phenotype/genotype correlations were established. In addition, we created a locus-specific database easily accessible at http://www.inpdr.org/genes that catalogs the 417 SMPD1 variants reported to date and provides data on their in silico predicted effects on ASM protein function or mRNA splicing. The information reviewed in this article, providing new insights into the genotype/phenotype correlation, is extremely valuable to facilitate diagnosis and genetic counseling of families affected by NPA/B.
[Mh] Termos MeSH primário: Bases de Dados Genéticas
Mutação
Doença de Niemann-Pick Tipo A/genética
Doença de Niemann-Pick Tipo B/genética
RNA Mensageiro/genética
Esfingomielina Fosfodiesterase/genética
[Mh] Termos MeSH secundário: Éxons
Expressão Gênica
Genes Recessivos
Estudos de Associação Genética
Genótipo
Seres Humanos
Íntrons
Doença de Niemann-Pick Tipo A/diagnóstico
Doença de Niemann-Pick Tipo A/patologia
Doença de Niemann-Pick Tipo B/diagnóstico
Doença de Niemann-Pick Tipo B/patologia
Fases de Leitura Aberta
Fenótipo
Processamento de RNA
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Nome de substância:
0 (RNA, Messenger); EC 3.1.4.12 (Sphingomyelin Phosphodiesterase); EC 3.1.4.12 (sphingomyelin phosphodiesterase 1, human)
[Em] Mês de entrada:1610
[Cu] Atualização por classe:161230
[Lr] Data última revisão:
161230
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151027
[St] Status:MEDLINE
[do] DOI:10.1002/humu.22923


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[PMID]:25834946
[Au] Autor:McGovern MM; Wasserstein MP; Kirmse B; Duvall WL; Schiano T; Thurberg BL; Richards S; Cox GF
[Ad] Endereço:Icahn School of Medicine at Mount Sinai, New York, New York, USA.
[Ti] Título:Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency).
[So] Source:Genet Med;18(1):34-40, 2016 Jan.
[Is] ISSN:1530-0366
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: Enzyme replacement therapy with olipudase alfa (recombinant human acid sphingomyelinase) is being developed for Niemann-Pick disease type B (NPD B). METHODS: A single-center, open-label, nonrandomized, single-ascending-dose trial evaluated the safety of intravenous olipudase alfa (0.03-1.0 mg/kg) in 11 adults with NPD B. Patients were monitored in the hospital for 72 h after infusion and had follow-up visits on days 14 and 28. RESULTS: Plasma ceramide, a product of sphingomyelin catabolism by olipudase alfa, showed dose-dependent elevations by 6 h postdose, or postinfusion. No serious adverse drug reactions (ADRs) occurred during the study. Acute phase reaction-type ADRs, as evidenced by elevated inflammatory biomarkers (high-sensitivity C-reactive protein, interleukin-8, and calcitonin) and constitutional symptoms (fever, pain, nausea, and/or vomiting) emerged 12-24 h following doses ≥0.3 mg/kg olipudase alfa. Three patients experienced hyperbilirubinemia. The study was terminated after a patient dosed at 1 mg/kg exhibited severe hyperbilirubinemia; he was subsequently diagnosed with Gilbert syndrome. CONCLUSION: The maximum tolerated dose of olipudase alfa in adults with NPD B was 0.6 mg/kg. First-dose ADRs were likely induced by elevated concentrations of ceramide (or its downstream derivatives) generated by the catabolism of accumulated sphingomyelin. Within-patient dose escalation to slowly catabolize sphingomyelin stores may be a strategy to mitigate first-dose ADRs in patients with NPD B.Genet Med 18 1, 34-40.
[Mh] Termos MeSH primário: Doença de Niemann-Pick Tipo A/tratamento farmacológico
Doença de Niemann-Pick Tipo B/tratamento farmacológico
Proteínas Recombinantes/efeitos adversos
Esfingomielina Fosfodiesterase/efeitos adversos
[Mh] Termos MeSH secundário: Adulto
Proteína C-Reativa/metabolismo
Relação Dose-Resposta a Droga
Terapia de Reposição de Enzimas/efeitos adversos
Terapia de Reposição de Enzimas/métodos
Feminino
Seres Humanos
Hiperbilirrubinemia
Interleucina-8/metabolismo
Masculino
Meia-Idade
Doença de Niemann-Pick Tipo A/enzimologia
Doença de Niemann-Pick Tipo B/enzimologia
Proteínas Recombinantes/administração & dosagem
Esfingomielina Fosfodiesterase/administração & dosagem
Esfingomielina Fosfodiesterase/deficiência
[Pt] Tipo de publicação:CLINICAL TRIAL, PHASE I; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (IL8 protein, human); 0 (Interleukin-8); 0 (Recombinant Proteins); 9007-41-4 (C-Reactive Protein); EC 3.1.4.12 (Sphingomyelin Phosphodiesterase); EC 3.1.4.12 (olipudase alfa)
[Em] Mês de entrada:1611
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150404
[St] Status:MEDLINE
[do] DOI:10.1038/gim.2015.24



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