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[PMID]:27916847
[Au] Autor:Bolourchi M; Renella P; Wang RY
[Ad] Endereço:Department of Pediatrics, Children's Hospital of Orange County, Orange, CA 92868, USA. meena.bolourchi@gmail.com.
[Ti] Título:Aortic Root Dilatation in Mucopolysaccharidosis I-VII.
[So] Source:Int J Mol Sci;17(12), 2016 Nov 29.
[Is] ISSN:1422-0067
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:The prevalence of aortic root dilatation (ARD) in mucopolysaccharidosis (MPS) is not well documented. We investigated aortic root measurements in 34 MPS patients at the Children's Hospital of Orange County (CHOC). The diagnosis, treatment status, age, gender, height, weight and aortic root parameters (aortic valve annulus (AVA), sinuses of Valsalva (SoV), and sinotubular junction (STJ)) were extracted by retrospective chart review and echocardiographic measurements. Descriptive statistics, ANOVA, and paired post-hoc -tests were used to summarize the aortic dimensions. Exact binomial 95% confidence intervals (CIs) were constructed for ARD, defined as a score greater than 2 at the SoV. The patient age ranged from 3.4-25.9 years (mean 13.3 ± 6.1), the height from 0.87-1.62 meters (mean 1.24 ± 0.21), and the weight from 14.1-84.5 kg (mean 34.4 ± 18.0). The prevalence of dilation at the AVA was 41% (14/34; 95% CI: 25%-59%); at the SoV was 35% (12/34; 95% CI: 20%-54%); and at the STJ was 30% (9/30; 95% CI: 15%-49%). The highest prevalence of ARD was in MPS IVa (87.5%). There was no significant difference between mean z-scores of MPS patients who received treatment with hematopoietic stem cell transplantation (HSCT) or enzyme replacement therapy (ERT) vs. untreated MPS patients at the AVA ( = 1.9 ± 2.5 vs. = 1.5 ± 2.4; = 0.62), SoV ( = 1.2 ± 1.6 vs. = 1.3 ± 2.2; = 0.79), or STJ ( = 1.0 ± 1.8 vs. = 1.2 ± 1.6; = 0.83). The prevalence of ARD was 35% in our cohort of MPS I-VII patients. Thus, we recommend screening for ARD on a routine basis in this patient population.
[Mh] Termos MeSH primário: Doenças da Aorta/diagnóstico
Dilatação Patológica/diagnóstico
Mucopolissacaridose III/patologia
Mucopolissacaridose II/patologia
Mucopolissacaridose IV/patologia
Mucopolissacaridose I/patologia
Mucopolissacaridose VII/patologia
Mucopolissacaridose VI/patologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Aorta/metabolismo
Aorta/patologia
Doenças da Aorta/tratamento farmacológico
Doenças da Aorta/terapia
Criança
Dilatação Patológica/tratamento farmacológico
Dilatação Patológica/terapia
Feminino
Seres Humanos
Masculino
Mucopolissacaridose I/metabolismo
Mucopolissacaridose II/metabolismo
Mucopolissacaridose III/metabolismo
Mucopolissacaridose IV/metabolismo
Mucopolissacaridose VI/metabolismo
Mucopolissacaridose VII/metabolismo
Estudos Retrospectivos
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[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:161206
[St] Status:MEDLINE


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[PMID]:27053151
[Au] Autor:Parente MK; Rozen R; Seeholzer SH; Wolfe JH
[Ad] Endereço:Research Institute of the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
[Ti] Título:Integrated analysis of proteome and transcriptome changes in the mucopolysaccharidosis type VII mouse hippocampus.
[So] Source:Mol Genet Metab;118(1):41-54, 2016 May.
[Is] ISSN:1096-7206
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mucopolysaccharidosis type VII (MPS VII) is a lysosomal storage disease caused by the deficiency of ß-glucuronidase. In this study, we compared the changes relative to normal littermates in the proteome and transcriptome of the hippocampus in the C57Bl/6 mouse model of MPS VII, which has well-documented histopathological and neurodegenerative changes. A completely different set of significant changes between normal and MPS VII littermates were found in each assay. Nevertheless, the functional annotation terms generated by the two methods showed agreement in many of the processes, which also corresponded to known pathology associated with the disease. Additionally, assay-specific changes were found, which in the proteomic analysis included mitochondria, energy generation, and cytoskeletal differences in the mutant, while the transcriptome differences included immune, vesicular, and extracellular matrix changes. In addition, the transcriptomic changes in the mutant hippocampus were concordant with those in a MPS VII mouse caused by the same mutation but on a different background inbred strain.
[Mh] Termos MeSH primário: Perfilação da Expressão Gênica/métodos
Hipocampo/metabolismo
Mucopolissacaridose VII/genética
Mucopolissacaridose VII/metabolismo
Proteômica/métodos
[Mh] Termos MeSH secundário: Animais
Regulação da Expressão Gênica
Redes Reguladoras de Genes
Camundongos
Camundongos Endogâmicos C57BL
Anotação de Sequência Molecular
Análise de Sequência com Séries de Oligonucleotídeos/métodos
Espectrometria de Massas em Tandem
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170501
[Lr] Data última revisão:
170501
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160408
[St] Status:MEDLINE


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[PMID]:26908836
[Au] Autor:Montaño AM; Lock-Hock N; Steiner RD; Graham BH; Szlago M; Greenstein R; Pineda M; Gonzalez-Meneses A; Çoker M; Bartholomew D; Sands MS; Wang R; Giugliani R; Macaya A; Pastores G; Ketko AK; Ezgü F; Tanaka A; Arash L; Beck M; Falk RE; Bhattacharya K; Franco J; White KK; Mitchell GA; Cimbalistiene L; Holtz M; Sly WS
[Ad] Endereço:Department of Pediatrics, School of Medicine, Saint Louis University, St. Louis, Missouri, USA Edward A. Doisy Department of Biochemistry and Molecular Biology, School of Medicine, Saint Louis University, St. Louis, Missouri, USA.
[Ti] Título:Clinical course of sly syndrome (mucopolysaccharidosis type VII).
[So] Source:J Med Genet;53(6):403-18, 2016 Jun.
[Is] ISSN:1468-6244
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Mucopolysaccharidosis VII (MPS VII) is an ultra-rare disease characterised by the deficiency of ß-glucuronidase (GUS). Patients' phenotypes vary from severe forms with hydrops fetalis, skeletal dysplasia and mental retardation to milder forms with fewer manifestations and mild skeletal abnormalities. Accurate assessments on the frequency and clinical characteristics of the disease have been scarce. The aim of this study was to collect such data. METHODS: We have conducted a survey of physicians to document the medical history of patients with MPS VII. The survey included anonymous information on patient demographics, family history, mode of diagnosis, age of onset, signs and symptoms, severity, management, clinical features and natural progression of the disease. RESULTS: We collected information on 56 patients from 11 countries. Patients with MPS VII were classified based on their phenotype into three different groups: (1) neonatal non-immune hydrops fetalis (NIHF) (n=10), (2) Infantile or adolescent form with history of hydrops fetalis (n=13) and (3) Infantile or adolescent form without known hydrops fetalis (n=33). Thirteen patients with MPS VII who had the infantile form with history of hydrops fetalis and survived childhood, had a wide range of clinical manifestations from mild to severe. Five patients underwent bone marrow transplantation and one patient underwent enzyme replacement therapy with recombinant human GUS. CONCLUSIONS: MPS VII is a pan-ethnic inherited lysosomal storage disease with considerable phenotypical heterogeneity. Most patients have short stature, skeletal dysplasia, hepatosplenomegaly, hernias, cardiac involvement, pulmonary insufficiency and cognitive impairment. In these respects it resembles MPS I and MPS II. In MPS VII, however, one unique and distinguishing clinical feature is the unexpectedly high proportion of patients (41%) that had a history of NIHF. Presence of NIHF does not, by itself, predict the eventual severity of the clinical course, if the patient survives infancy.
[Mh] Termos MeSH primário: Mucopolissacaridose VII/patologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Feminino
Glucuronidase/metabolismo
Seres Humanos
Lactente
Doenças por Armazenamento dos Lisossomos/metabolismo
Doenças por Armazenamento dos Lisossomos/patologia
Masculino
Mucopolissacaridose VII/metabolismo
Fenótipo
Inquéritos e Questionários
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.2.1.31 (Glucuronidase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171031
[Lr] Data última revisão:
171031
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160225
[St] Status:MEDLINE
[do] DOI:10.1136/jmedgenet-2015-103322


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[PMID]:26447927
[Au] Autor:Gurda BL; De Guilhem De Lataillade A; Bell P; Zhu Y; Yu H; Wang P; Bagel J; Vite CH; Sikora T; Hinderer C; Calcedo R; Yox AD; Steet RA; Ruane T; O'Donnell P; Gao G; Wilson JM; Casal M; Ponder KP; Haskins ME
[Ad] Endereço:Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA. Electronic address: bgurda@vet.upenn.edu.
[Ti] Título:Evaluation of AAV-mediated Gene Therapy for Central Nervous System Disease in Canine Mucopolysaccharidosis VII.
[So] Source:Mol Ther;24(2):206-216, 2016 Feb.
[Is] ISSN:1525-0024
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mucopolysaccharidosis VII (MPS VII) is a lysosomal storage disease arising from mutations in ß-d-glucuronidase (GUSB), which results in glycosaminoglycan (GAG) accumulation and a variety of clinical manifestations including neurological disease. Herein, MPS VII dogs were injected intravenously (i.v.) and/or intrathecally (i.t.) via the cisterna magna with AAV9 or AAVrh10 vectors carrying the canine GUSB cDNA. Although i.v. injection alone at 3 days of age resulted in normal cerebrospinal fluid (CSF) GUSB activity, brain tissue homogenates had only ~1 to 6% normal GUSB activity and continued to have elevated GAG storage. In contrast, i.t. injection at 3 weeks of age resulted in CSF GUSB activity 44-fold normal while brain tissue homogenates had >100% normal GUSB activity and reduced GAGs compared with untreated dogs. Markers for secondary storage and inflammation were eliminated in i.t.-treated dogs and reduced in i.v.-treated dogs compared with untreated dogs. Given that i.t.-treated dogs expressed higher levels of GUSB in the CNS tissues compared to those treated i.v., we conclude that i.t. injection of AAV9 or AAVrh10 vectors is more effective than i.v. injection alone in the large animal model of MPS VII.
[Mh] Termos MeSH primário: Doenças do Sistema Nervoso Central/terapia
Terapia Genética/métodos
Glucuronidase/genética
Mucopolissacaridose VII/terapia
[Mh] Termos MeSH secundário: Animais
Animais Recém-Nascidos
Doenças do Sistema Nervoso Central/genética
Doenças do Sistema Nervoso Central/metabolismo
Dependovirus/genética
Modelos Animais de Doenças
Cães
Vetores Genéticos/administração & dosagem
Glucuronidase/líquido cefalorraquidiano
Glicosaminoglicanos/metabolismo
Injeções Intravenosas
Injeções Espinhais
Masculino
Mucopolissacaridose VII/complicações
Mucopolissacaridose VII/genética
Mucopolissacaridose VII/metabolismo
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (Glycosaminoglycans); EC 3.2.1.31 (Glucuronidase)
[Em] Mês de entrada:1611
[Cu] Atualização por classe:170920
[Lr] Data última revisão:
170920
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151009
[St] Status:MEDLINE


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[PMID]:26415878
[Au] Autor:Khan FI; Shahbaaz M; Bisetty K; Waheed A; Sly WS; Ahmad F; Hassan MI
[Ad] Endereço:Department of Chemistry, Durban University of Technology, Durban 4000, South Africa.
[Ti] Título:Large scale analysis of the mutational landscape in ß-glucuronidase: A major player of mucopolysaccharidosis type VII.
[So] Source:Gene;576(1 Pt 1):36-44, 2016 Jan 15.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:The lysosomal storage disorders are a group of 50 unique inherited diseases characterized by unseemly lipid storage in lysosomes. These malfunctions arise due to genetic mutations that result in deficiency or reduced activities of the lysosomal enzymes, which are responsible for catabolism of biological macromolecules. Sly syndrome or mucopolysaccharidosis type VII is a lysosomal storage disorder associated with the deficiency of ß-glucuronidase (EC 3.2.1.31) that catalyzes the hydrolysis of ß-D-glucuronic acid residues from the non-reducing terminal of glycosaminoglycan. The effects of the disease causing mutations on the framework of the sequences and structure of ß-glucuronidase (GUSBp) were analyzed utilizing a variety of bioinformatic tools. These analyses showed that 211 mutations may result in alteration of the biological activity of GUSBp, including previously experimentally validated mutations. Finally, we refined 90 disease causing mutations, which presumably cause a significant impact on the structure, function, and stability of GUSBp. Stability analyses showed that mutations p.Phe208Pro, p.Phe539Gly, p.Leu622Gly, p.Ile499Gly and p.Ile586Gly caused the highest impact on GUSBp stability and function because of destabilization of the protein structure. Furthermore, structures of wild type and mutant GUSBp were subjected to molecular dynamics simulation to examine the relative structural behaviors in the explicit conditions of water. In a broader view, the use of in silico approaches provided a useful understanding of the effect of single point mutations on the structure-function relationship of GUSBp.
[Mh] Termos MeSH primário: Glucuronidase
Simulação de Dinâmica Molecular
Mucopolissacaridose VII
Mutação de Sentido Incorreto
[Mh] Termos MeSH secundário: Substituição de Aminoácidos
Simulação por Computador
Glucuronidase/química
Glucuronidase/genética
Seres Humanos
Mucopolissacaridose VII/enzimologia
Mucopolissacaridose VII/genética
Estrutura Terciária de Proteína
Relação Estrutura-Atividade
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 3.2.1.31 (Glucuronidase)
[Em] Mês de entrada:1603
[Cu] Atualização por classe:151130
[Lr] Data última revisão:
151130
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150930
[St] Status:MEDLINE


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[PMID]:26422116
[Au] Autor:Peck SH; O'Donnell PJ; Kang JL; Malhotra NR; Dodge GR; Pacifici M; Shore EM; Haskins ME; Smith LJ
[Ad] Endereço:Department of Neurosurgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Orthopaedic Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
[Ti] Título:Delayed hypertrophic differentiation of epiphyseal chondrocytes contributes to failed secondary ossification in mucopolysaccharidosis VII dogs.
[So] Source:Mol Genet Metab;116(3):195-203, 2015 Nov.
[Is] ISSN:1096-7206
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mucopolysaccharidosis (MPS) VII is a lysosomal storage disorder characterized by deficient ß-glucuronidase activity, which leads to the accumulation of incompletely degraded glycosaminoglycans (GAGs). MPS VII patients present with severe skeletal abnormalities, which are particularly prevalent in the spine. Incomplete cartilage-to-bone conversion in MPS VII vertebrae during postnatal development is associated with progressive spinal deformity and spinal cord compression. The objectives of this study were to determine the earliest postnatal developmental stage at which vertebral bone disease manifests in MPS VII and to identify the underlying cellular basis of impaired cartilage-to-bone conversion, using the naturally-occurring canine model. Control and MPS VII dogs were euthanized at 9 and 14 days-of-age, and vertebral secondary ossification centers analyzed using micro-computed tomography, histology, qPCR, and protein immunoblotting. Imaging studies and mRNA analysis of bone formation markers established that secondary ossification commences between 9 and 14 days in control animals, but not in MPS VII animals. mRNA analysis of differentiation markers revealed that MPS VII epiphyseal chondrocytes are unable to successfully transition from proliferation to hypertrophy during this critical developmental window. Immunoblotting demonstrated abnormal persistence of Sox9 protein in MPS VII cells between 9 and 14 days-of-age, and biochemical assays revealed abnormally high intra and extracellular GAG content in MPS VII epiphyseal cartilage at as early as 9 days-of-age. In contrast, assessment of vertebral growth plates and primary ossification centers revealed no significant abnormalities at either age. The results of this study establish that failed vertebral bone formation in MPS VII can be traced to the failure of epiphyseal chondrocytes to undergo hypertrophic differentiation at the appropriate developmental stage, and suggest that aberrant processing of Sox9 protein may contribute to this cellular dysfunction. These results also highlight the importance of early diagnosis and therapeutic intervention to prevent the progression of debilitating skeletal disease in MPS patients.
[Mh] Termos MeSH primário: Condrócitos/citologia
Epífises/citologia
Mucopolissacaridose VII/complicações
Mucopolissacaridose VII/fisiopatologia
Osteogênese
[Mh] Termos MeSH secundário: Animais
Doenças Ósseas/etiologia
Doenças Ósseas/fisiopatologia
Diferenciação Celular
Cães
Glicosaminoglicanos/metabolismo
Seres Humanos
Hipertrofia
Coluna Vertebral/fisiologia
Microtomografia por Raio-X
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
0 (Glycosaminoglycans)
[Em] Mês de entrada:1608
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151001
[St] Status:MEDLINE


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[PMID]:26141114
[Au] Autor:Gniadek TJ; Singer N; Barker NJ; Spevak PJ; Crain BJ; Valle D; Halushka MK
[Ad] Endereço:Department of Pathology, Johns Hopkins Hospital, Baltimore, MD 21205, USA.
[Ti] Título:Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome).
[So] Source:Cardiovasc Pathol;24(5):322-6, 2015 Sep-Oct.
[Is] ISSN:1879-1336
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We present the cardiac findings from the autopsy of a 28-year-old male with mucopolysaccharidosis VII (MPS VII), also known as Sly Syndrome, whose diagnosis was confirmed by biochemical testing. The patient died a sudden cardiac death. Autopsy showed thickened and stenotic aortic valve leaflets as well as marked concentric intimal thickening of the aorta and muscular arteries. There was left ventricular hypertrophy as well as mild papillary muscle thickening and fusion. Increased colloid iron staining was seen in the small- and medium-sized arteries of the heart and at the intercalated discs. We discuss the patient's premortem echocardiographic and electrocardiographic studies. In addition, we discuss the pathogenesis of MPS VII and review previous literature on its anatomic and pathologic features.
[Mh] Termos MeSH primário: Aorta/patologia
Valvas Cardíacas/patologia
Mucopolissacaridose VII/patologia
Miocárdio/patologia
[Mh] Termos MeSH secundário: Adulto
Autopsia
Morte Súbita Cardíaca/etiologia
Morte Súbita Cardíaca/patologia
Seres Humanos
Masculino
Mucopolissacaridose VII/complicações
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Mês de entrada:1606
[Cu] Atualização por classe:150908
[Lr] Data última revisão:
150908
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150705
[St] Status:MEDLINE


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[PMID]:26118695
[Au] Autor:Wang P; Sorenson J; Strickland S; Mingus C; Haskins ME; Giger U
[Ad] Endereço:Section of Medical Genetics, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA.
[Ti] Título:Mucopolysaccharidosis VII in a Cat Caused by 2 Adjacent Missense Mutations in the GUSB Gene.
[So] Source:J Vet Intern Med;29(4):1022-8, 2015 Jul-Aug.
[Is] ISSN:1939-1676
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Mucopolysaccharidoses (MPS) are common lysosomal storage disorders causing typically progressive skeletal and ocular abnormalities. OBJECTIVES: To describe the clinic features, metabolic profile and a unique mutation in a domestic shorthair (DSH) kitten with MPS VII. ANIMALS: Affected kitten and 80 healthy cats. METHODS: Serum lysosomal enzyme activities and urinary glycosaminoglycan (GAG) accumulation were assessed. Exons of the ß-glucuronidase gene (GUSB) were sequenced from genomic DNA and genotyping was conducted. RESULTS: A 3-month-old DSH cat was presented for stunted growth, paresis, facial dysmorphia, multiple skeletal deformities, and corneal opacities. Evaluation of blood smears disclosed metachromatic granules in leukocytes and a urinary mucopolysaccharide spot test was positive. The proband had no GUSB activity but normal or increased activities for other lysosomal enzymes. Sequencing of the GUSB gene from the proband and comparison to the sequence of 2 healthy cats and the published feline genome sequence demonstrated 2 unique single base transitions (c.1421T>G and c.1424C>T) in exon 9, altering 2 adjacent codons (p.Ser475Ala and p.Arg476Trp). These amino acid changes are in a highly conserved domain of the GUSB protein and nontolerable to maintain function. Moreover, the p.Arg476Trp mutation previously has been identified in human patients. None of the other clinically healthy cats had these mutations. CONCLUSIONS AND CLINIC IMPORTANCE: The diagnostic approach to MPS disorders is delineated. This is only the second mutation known to cause MPS VII in cats. Similarly, 2 different mutations have been described in MPS VII dogs, thereby showing the molecular heterogeneity of MPS VII in companion animals.
[Mh] Termos MeSH primário: Doenças do Gato/genética
Glucuronidase/genética
Mucopolissacaridose VII/veterinária
Mutação de Sentido Incorreto/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/genética
Anormalidades Múltiplas/veterinária
Animais
Gatos/genética
Feminino
Genes/genética
Mucopolissacaridose VII/genética
Análise de Sequência de DNA/veterinária
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
EC 3.2.1.31 (Glucuronidase)
[Em] Mês de entrada:1604
[Cu] Atualização por classe:161019
[Lr] Data última revisão:
161019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150630
[St] Status:MEDLINE
[do] DOI:10.1111/jvim.13569


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[PMID]:25866157
[Au] Autor:Griffin TA; Anderson HC; Wolfe JH
[Ad] Endereço:Research Institute of the Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
[Ti] Título:Ex vivo gene therapy using patient iPSC-derived NSCs reverses pathology in the brain of a homologous mouse model.
[So] Source:Stem Cell Reports;4(5):835-46, 2015 May 12.
[Is] ISSN:2213-6711
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Neural stem cell (NSC) transplantation is a promising strategy for delivering therapeutic proteins in the brain. We evaluated a complete process of ex vivo gene therapy using human induced pluripotent stem cell (iPSC)-derived NSC transplants in a well-characterized mouse model of a human lysosomal storage disease, Sly disease. Human Sly disease fibroblasts were reprogrammed into iPSCs, differentiated into a stable and expandable population of NSCs, genetically corrected with a transposon vector, and assessed for engraftment in NOD/SCID mice. Following neonatal intraventricular transplantation, the NSCs engraft along the rostrocaudal axis of the CNS primarily within white matter tracts and survive for at least 4 months. Genetically corrected iPSC-NSCs transplanted post-symptomatically into the striatum of adult Sly disease mice reversed neuropathology in a zone surrounding the grafts, while control mock-corrected grafts did not. The results demonstrate the potential for ex vivo gene therapy in the brain using human NSCs from autologous, non-neural tissues.
[Mh] Termos MeSH primário: Encéfalo/patologia
Células-Tronco Neurais/metabolismo
Células-Tronco Pluripotentes/citologia
[Mh] Termos MeSH secundário: Adulto
Animais
Diferenciação Celular
Células Cultivadas
Reprogramação Celular
Dependovirus/genética
Modelos Animais de Doenças
Feminino
Terapia Genética
Seres Humanos
Cariotipagem
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Endogâmicos NOD
Camundongos SCID
Mucopolissacaridose VII/terapia
Células-Tronco Neurais/citologia
Células-Tronco Neurais/transplante
Fatores de Transcrição/genética
Fatores de Transcrição/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL
[Nm] Nome de substância:
0 (Transcription Factors)
[Em] Mês de entrada:1602
[Cu] Atualização por classe:170220
[Lr] Data última revisão:
170220
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150414
[St] Status:MEDLINE


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[PMID]:25748347
[Au] Autor:Jackson M; Derrick Roberts A; Martin E; Rout-Pitt N; Gronthos S; Byers S
[Ad] Endereço:Genetics and Molecular Pathology, SA Pathology, North Adelaide, South Australia, Australia; Department of Genetics, The University of Adelaide, South Australia, Australia.
[Ti] Título:Mucopolysaccharidosis enzyme production by bone marrow and dental pulp derived human mesenchymal stem cells.
[So] Source:Mol Genet Metab;114(4):584-93, 2015 Apr.
[Is] ISSN:1096-7206
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Mucopolysaccharidoses (MPS) are inherited metabolic disorders that arise from a complete loss or a reduction in one of eleven specific lysosomal enzymes. MPS children display pathology in multiple cell types leading to tissue and organ failure and early death. Mesenchymal stem cells (MSCs) give rise to many of the cell types affected in MPS, including those that are refractory to current treatment protocols such as hematopoietic stem cell (HSC) based therapy. In this study we compared multiple MPS enzyme production by bone marrow derived (hBM) and dental pulp derived (hDP) MSCs to enzyme production by HSCs. hBM MSCs produce significantly higher levels of MPS I, II, IIIA, IVA, VI and VII enzyme than HSCs, while hDP MSCs produce significantly higher levels of MPS I, IIIA, IVA, VI and VII enzymes. Higher transfection efficiency was observed in MSCs (89%) compared to HSCs (23%) using a lentiviral vector. Over-expression of four different lysosomal enzymes resulted in up to 9303-fold and up to 5559-fold greater levels in MSC cell layer and media respectively. Stable, persistent transduction of MSCs and sustained over-expression of MPS VII enzyme was observed in vitro. Transduction of MSCs did not affect the ability of the cells to differentiate down osteogenic, adipogenic or chondrogenic lineages, but did partially delay differentiation down the non-mesodermal neurogenic lineage.
[Mh] Termos MeSH primário: Diferenciação Celular
Glucuronidase/biossíntese
Células Mesenquimais Estromais/enzimologia
Mucopolissacaridoses/enzimologia
[Mh] Termos MeSH secundário: Medula Óssea
Células Cultivadas
Polpa Dentária
Glucuronidase/genética
Glicosaminoglicanos/metabolismo
Células-Tronco Hematopoéticas/enzimologia
Seres Humanos
Lentivirus/genética
Mucopolissacaridose VII/genética
Transdução Genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Glycosaminoglycans); EC 3.2.1.31 (Glucuronidase)
[Em] Mês de entrada:1601
[Cu] Atualização por classe:150407
[Lr] Data última revisão:
150407
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:150310
[St] Status:MEDLINE



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