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[PMID]:29235819
[Au] Autor:Olkhovych NV; Gorovenko NG
[Ti] Título:Determination of frequencies of alleles, associated with the pseudodeficiency of lysosomal hydrolases, in population of Ukraine.
[So] Source:Ukr Biochem J;88(5):96-106, 2016 Sep-Oct.
[Is] ISSN:2409-4943
[Cp] País de publicação:Ukraine
[La] Idioma:eng
[Ab] Resumo:The pseudodeficiency of lysosomal hydrolases described as a significant reduction in enzyme activi­ty in vitro in clinically healthy individuals, can lead to diagnostic errors in the process of biochemical analysis of lysosomal storage disease in case of its combination with pathology of another origin. Pseudodeficiency is mostly caused by some non-pathogenic changes in the corresponding gene. These changes lead to the in vitro lability of the enzyme molecule, whereas in vivo the enzyme retains its functional activity. To assess the prevalence of the most common lysosomal hydrolases pseudodeficiency alleles in Ukraine, we have determined the frequency of alleles c.1055A>G and c.* 96A>G in the ARSA gene, substitutions c.739C>T (R247W) and c.745C>T (R249W) in the HEXA gene, c.1726G>A (G576S) and c.2065G>A (E689K) in the GAA gene, c.937G>T (D313Y) in the GLA1 gene and c.898G>A (A300T) in the IDUA gene in a group of 117 healthy individuals from different regions of the country and 14 heterozygous carriers of pathogenic mutations in the HEXA gene (parents of children with confirmed diagnosis of Tay-Sachs disease). The total frequency of haplotypes, associated with arylsulfatase A pseudodeficiency, in healthy people in Ukraine (c.1055G/c.*96G and c.1055G/c.*96A haplotypes) was 10.3%. The frequency of c.739C>T (R247W) allele, associated with hexo­saminidase A pseudodeficiency, among Tay-Sachs carriers from Ukraine was 7.1%. The total frequency of α-glucosidase pseudodeficiency haplotypes in healthy individuals in Ukraine (c.1726A/c.2065A and c.1726G/c.2065A haplotypes) was 2.6%. No person among examined individuals with the substitution c.937G>T (D313Y) in the GLA1 gene and c.898G>A (A300T) in the IDUA gene was found. The differential diagnostics of lysosomal storage diseases requires obligatory determination of the presence of the pseudodeficiency alleles, particularly the ones with high incidence in the total population. Ignoring phenomenon of pseudodeficiency may lead to serious diagnostic errors.
[Mh] Termos MeSH primário: Cerebrosídeo Sulfatase/genética
Frequência do Gene
Iduronidase/genética
Doenças por Armazenamento dos Lisossomos/genética
alfa-Galactosidase/genética
alfa-Glucosidases/genética
Cadeia alfa da beta-Hexosaminidase/genética
[Mh] Termos MeSH secundário: Adulto
Alelos
Doenças Assintomáticas
Cerebrosídeo Sulfatase/deficiência
Criança
Diagnóstico Diferencial
Erros de Diagnóstico
Feminino
Expressão Gênica
Haplótipos
Seres Humanos
Iduronidase/deficiência
Doenças por Armazenamento dos Lisossomos/diagnóstico
Doenças por Armazenamento dos Lisossomos/enzimologia
Doenças por Armazenamento dos Lisossomos/epidemiologia
Lisossomos/enzimologia
Masculino
Mutação
Ucrânia/epidemiologia
alfa-Glucosidases/deficiência
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.6.8 (Cerebroside-Sulfatase); EC 3.2.1.20 (GAA protein, human); EC 3.2.1.20 (alpha-Glucosidases); EC 3.2.1.22 (alpha-Galactosidase); EC 3.2.1.52 (HEXA protein, human); EC 3.2.1.52 (beta-Hexosaminidase alpha Chain); EC 3.2.1.76 (IDUA protein, human); EC 3.2.1.76 (Iduronidase)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180116
[Lr] Data última revisão:
180116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171214
[St] Status:MEDLINE
[do] DOI:10.15407/ubj88.05.096


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[PMID]:28526683
[Au] Autor:Stax AM; Tuengel J; Girardi E; Kitano N; Allan LL; Liu V; Zheng D; Panenka WJ; Guillaume J; Wong CH; van Calenbergh S; Zajonc DM; van den Elzen P
[Ad] Endereço:BC Children's Hospital Research Institute, Vancouver, British Columbia V5Z 4H4, Canada.
[Ti] Título:Autoreactivity to Sulfatide by Human Invariant NKT Cells.
[So] Source:J Immunol;199(1):97-106, 2017 Jul 01.
[Is] ISSN:1550-6606
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Invariant NKT (iNKT) cells are innate-like lymphocytes that recognize lipid Ags presented by CD1d. The prototypical Ag, α-galactosylceramide, strongly activates human and mouse iNKT cells, leading to the assumption that iNKT cell physiology in human and mouse is similar. In this article, we report the surprising finding that human, but not mouse, iNKT cells directly recognize myelin-derived sulfatide presented by CD1d. We propose that sulfatide is recognized only by human iNKT cells because of the unique positioning of the 3- -sulfated ß-galactose headgroup. Surface plasmon resonance shows that the affinity of human CD1d-sulfatide for the iNKT cell receptor is relatively low compared with CD1d-α-galactosylceramide ( of 19-26 µM versus 1 µM). Apolipoprotein E isolated from human cerebrospinal fluid carries sulfatide that can be captured by APCs and presented by CD1d to iNKT cells. APCs from patients with metachromatic leukodystrophy, who accumulate sulfatides due to a deficiency in arylsulfatase-A, directly activate iNKT cells. Thus, we have identified sulfatide as a self-lipid recognized by human iNKT cells and propose that sulfatide recognition by innate T cells may be an important pathologic feature of neuroinflammatory disease and that sulfatide in APCs may contribute to the endogenous pathway of iNKT cell activation.
[Mh] Termos MeSH primário: Apresentação do Antígeno
Ativação Linfocitária
Células T Matadoras Naturais/imunologia
Sulfoglicoesfingolipídeos/imunologia
[Mh] Termos MeSH secundário: Animais
Antígenos CD1d/imunologia
Apolipoproteínas E/líquido cefalorraquidiano
Apolipoproteínas E/química
Apolipoproteínas E/imunologia
Linhagem Celular
Cerebrosídeo Sulfatase/deficiência
Cerebrosídeo Sulfatase/metabolismo
Galactosilceramidas/imunologia
Seres Humanos
Leucodistrofia Metacromática/imunologia
Camundongos
Células T Matadoras Naturais/fisiologia
Receptores de Antígenos de Linfócitos T/imunologia
Ressonância de Plasmônio de Superfície
Subpopulações de Linfócitos T/imunologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antigens, CD1d); 0 (Apolipoproteins E); 0 (CD1D protein, human); 0 (CD1d antigen, mouse); 0 (Galactosylceramides); 0 (Receptors, Antigen, T-Cell); 0 (Sulfoglycosphingolipids); 0 (alpha-galactosylceramide); EC 3.1.6.8 (Cerebroside-Sulfatase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170927
[Lr] Data última revisão:
170927
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170521
[St] Status:MEDLINE
[do] DOI:10.4049/jimmunol.1601976


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[PMID]:28181906
[Au] Autor:Kwiatkowska E; Domanski L; Bober J; Safranow K; Pawlik A; Ciechanowski K
[Ad] Endereço:Department of Nephrology, Transplantology and Internal Medicine, Pomeranian Medical University in Szczecin, Poland.
[Ti] Título:Activity of urine arylsulfatase A in brain­dead graft donors is a predictor of early and late graft function.
[So] Source:Postepy Hig Med Dosw (Online);71(0):1-4, 2017 Jan 04.
[Is] ISSN:1732-2693
[Cp] País de publicação:Poland
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: Human lysosomal arylsulfatase A (ASA) is a member of the sulfatase family. Arylsulfatase A is required to degrade sulfatides. Sulfatides occur in the myelin sheets of the central and peripheral nervous system. In this study we evaluated the urine activity of lysosomal enzyme arylsulfatase A in brain­dead donors as a marker and predictor of short - and long­term renal allograft function. PATIENTS/METHODS: We analyzed data from kidney recipients who received organs from brain­dead donors. Data from 40 donors and 68 recipients were analyzed. RESULTS: Urine activity of arylsulfatase A in graft donors correlated positively with creatinine clearance in graft recipients after transplantation: significantly after 30 days (Rs=0.38, p=0.004) and after 3 years (Rs=0.38, p=0.03), and with borderline significance after 14 days (Rs=0.25, p=0.08) and after one year (Rs=0.23, p=0.07). CONCLUSIONS: The results of this study suggest that arylsulfatase A has a protective effect on kidney allograft, and the urine activity of this enzyme in kidney donors correlates positively with graft function.
[Mh] Termos MeSH primário: Cerebrosídeo Sulfatase/urina
Sobrevivência de Enxerto
Transplantes
[Mh] Termos MeSH secundário: Adulto
Biomarcadores
Encéfalo
Creatinina
Seres Humanos
Rim
Transplante de Rim/métodos
Meia-Idade
Sistema Nervoso
Transplantados
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); AYI8EX34EU (Creatinine); EC 3.1.6.8 (Cerebroside-Sulfatase)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170724
[Lr] Data última revisão:
170724
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170210
[St] Status:MEDLINE
[do] DOI:10.5604/17322693.1227823


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[PMID]:27638601
[Au] Autor:Rosenberg JB; Kaminsky SM; Aubourg P; Crystal RG; Sondhi D
[Ad] Endereço:Department of Genetic Medicine, Weill Cornell Medical College, New York, New York.
[Ti] Título:Gene therapy for metachromatic leukodystrophy.
[So] Source:J Neurosci Res;94(11):1169-79, 2016 Nov.
[Is] ISSN:1097-4547
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Leukodystrophies (LDs) are rare, often devastating genetic disorders with neurologic symptoms. There are currently no disease-specific therapeutic approaches for these diseases. In this review we use metachromatic leukodystrophy as an example to outline in the brief the therapeutic approaches to MLD that have been tested in animal models and in clinical trials, such as enzyme-replacement therapy, bone marrow/umbilical cord blood transplants, ex vivo transplantation of genetically modified hematopoietic stem cells, and gene therapy. These studies suggest that to be successful the ideal therapy for MLD must provide persistent and high level expression of the deficient gene, arylsulfatase A in the CNS. Gene therapy using adeno-associated viruses is therefore the ideal choice for clinical development as it provides the best balance of potential for efficacy with reduced safety risk. Here we have summarized the published preclinical data from our group and from others that support the use of a gene therapy with AAVrh.10 serotype for clinical development as a treatment for MLD, and as an example of the potential of gene therapy for LDs especially for Krabbe disease, which is the focus of this special issue. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Terapia Genética/métodos
Leucodistrofia Metacromática/terapia
[Mh] Termos MeSH secundário: Animais
Cerebrosídeo Sulfatase/deficiência
Cerebrosídeo Sulfatase/genética
Modelos Animais de Doenças
Seres Humanos
Leucodistrofia Metacromática/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 3.1.6.8 (Cerebroside-Sulfatase)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171113
[Lr] Data última revisão:
171113
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160918
[St] Status:MEDLINE
[do] DOI:10.1002/jnr.23792


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[PMID]:27374302
[Au] Autor:Wang Z; Lin Y; Zheng D; Yan A; Tu X; Lin J; Lan F
[Ad] Endereço:Research Center for Molecular Diagnosis of Genetic Diseases, Dongfang Hospital, Xiamen University Medical College, Fuzhou, China.
[Ti] Título:Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree.
[So] Source:Clin Chim Acta;460:135-7, 2016 Sep 01.
[Is] ISSN:1873-3492
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Metachromatic leukodystrophy (MLD) is a rare inherited lysosomal storage disorder caused mainly by variants in arylsulfatase A (ARSA) gene. MLD can be divided into three major clinical forms according to the age of onset: late infantile, juvenile, and adult. We report two siblings of late infantile MLD presenting with cerebellar ataxia as the only first clinical symptom. METHODS: Because of the unspecific neurological manifestation, whole-exome sequencing (WES) was performed to find disease-causing mutations for molecular diagnosis. Then successive MRI and ARSA activity determination were performed to further confirm the diagnosis. Moreover, the prenatal diagnosis was carried out on the basis of molecular diagnosis. RESULTS: The siblings exhibited compound heterozygous variants {[c.302G>T]+[c.1344dupC]} in the ARSA gene, and both of the variants have been reported as disease-causing mutations previously. The results of MRI and low ARSA activity confirmed the diagnosis of MLD. Prenatal diagnosis showed that the fetus was a heterozygous carrier. CONCLUSIONS: It is recommended that WES be considered as a first line diagnostic procedure to discover potential disease-causing genetic variants in affected individuals with hereditary traits but without definite clinical diagnosis. However, the final diagnosis should be confirmed by comprehensive evaluations including biochemical, enzymatic or imaging investigations.
[Mh] Termos MeSH primário: Cerebrosídeo Sulfatase/genética
Exoma/genética
Leucodistrofia Metacromática/genética
Mutação
[Mh] Termos MeSH secundário: Idade de Início
Grupo com Ancestrais do Continente Asiático
Análise Mutacional de DNA
Heterozigoto
Seres Humanos
Lactente
Leucodistrofia Metacromática/diagnóstico
Linhagem
Diagnóstico Pré-Natal
Irmãos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.6.8 (Cerebroside-Sulfatase)
[Em] Mês de entrada:1702
[Cu] Atualização por classe:170202
[Lr] Data última revisão:
170202
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160705
[St] Status:MEDLINE


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[PMID]:27025653
[Au] Autor:Meneghini V; Lattanzi A; Tiradani L; Bravo G; Morena F; Sanvito F; Calabria A; Bringas J; Fisher-Perkins JM; Dufour JP; Baker KC; Doglioni C; Montini E; Bunnell BA; Bankiewicz K; Martino S; Naldini L; Gritti A
[Ad] Endereço:San Raffaele Telethon Institute for Gene Therapy (SR-TIGET), Division of Regenerative Medicine, Stem Cells and Gene Therapy, IRCCS San Raffaele Scientific Institute, Milan, Italy.
[Ti] Título:Pervasive supply of therapeutic lysosomal enzymes in the CNS of normal and Krabbe-affected non-human primates by intracerebral lentiviral gene therapy.
[So] Source:EMBO Mol Med;8(5):489-510, 2016 05.
[Is] ISSN:1757-4684
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Metachromatic leukodystrophy (MLD) and globoid cell leukodystrophy (GLD or Krabbe disease) are severe neurodegenerative lysosomal storage diseases (LSD) caused by arylsulfatase A (ARSA) and galactosylceramidase (GALC) deficiency, respectively. Our previous studies established lentiviral gene therapy (GT) as a rapid and effective intervention to provide pervasive supply of therapeutic lysosomal enzymes in CNS tissues of MLD and GLD mice. Here, we investigated whether this strategy is similarly effective in juvenile non-human primates (NHP). To provide proof of principle for tolerability and biological efficacy of the strategy, we established a comprehensive study in normal NHP delivering a clinically relevant lentiviral vector encoding for the human ARSA transgene. Then, we injected a lentiviral vector coding for the human GALC transgene in Krabbe-affected rhesus macaques, evaluating for the first time the therapeutic potential of lentiviral GT in this unique LSD model. We showed favorable safety profile and consistent pattern of LV transduction and enzyme biodistribution in the two models, supporting the robustness of the proposed GT platform. We documented moderate inflammation at the injection sites, mild immune response to vector particles in few treated animals, no indication of immune response against transgenic products, and no molecular evidence of insertional genotoxicity. Efficient gene transfer in neurons, astrocytes, and oligodendrocytes close to the injection sites resulted in robust production and extensive spreading of transgenic enzymes in the whole CNS and in CSF, leading to supraphysiological ARSA activity in normal NHP and close to physiological GALC activity in the Krabbe NHP, in which biological efficacy was associated with preliminary indication of therapeutic benefit. These results support the rationale for the clinical translation of intracerebral lentiviral GT to address CNS pathology in MLD, GLD, and other neurodegenerative LSD.
[Mh] Termos MeSH primário: Cerebrosídeo Sulfatase/genética
Galactosilceramidase/genética
Terapia Genética/métodos
Leucodistrofia de Células Globoides/terapia
Leucodistrofia Metacromática/terapia
[Mh] Termos MeSH secundário: Animais
Cerebrosídeo Sulfatase/metabolismo
Modelos Animais de Doenças
Galactosilceramidase/metabolismo
Terapia Genética/efeitos adversos
Vetores Genéticos
Seres Humanos
Lentivirus/genética
Macaca mulatta
Camundongos
Transdução Genética
Resultado do Tratamento
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.6.8 (Cerebroside-Sulfatase); EC 3.2.1.46 (Galactosylceramidase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170913
[Lr] Data última revisão:
170913
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160331
[St] Status:MEDLINE
[do] DOI:10.15252/emmm.201505850


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[PMID]:26890752
[Au] Autor:Stoeck K; Psychogios MN; Ohlenbusch A; Steinfeld R; Schmidt J
[Ad] Endereço:Department of Neurology, University Medical Center Göttingen, Germany.
[Ti] Título:Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene.
[So] Source:J Alzheimers Dis;51(3):683-7, 2016.
[Is] ISSN:1875-8908
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:A 48-year-old male patient presented with personality changes and progressive memory loss over 2 years with initially suspected Hashimoto's encephalopathy. Strategy of diagnostic workup of early onset dementia included dementia from neurodegenerative, neuroinflammatory, metabolic/toxic, and psychiatric origin. The patient's neurological exam was normal. MRI revealed a leukencephalopathy, predominantly in the frontal periventricular white matter, without notable changes over 2 years. On neurophysiological examination, prolonged central conduction times and a sensorimotor polyneuropathy were noted. Neuropsychological impairment included disorientation in place and a reduced short time memory. Behavioral alterations were predominated by sudden mood changes and disinhibition. Cerebrospinal fluid was normal. Despite presence of thyroid autoantibodies, glucocorticosteroid treatment did not improve the dementia. A metachromatic leukodystrophy was diagnosed by decreased arylsulfatase-A activity in leucocytes/fibroblasts and identification of a compound heterozygous mutation in the ARSA gene: c.542T>G (exon 3) and the novel mutation c.1013T>C (exon 6). Pathogenic function was suggested by bioinformatic mutation search. In a patient with early onset dementia, strategic diagnostic workup including genetic assessment revealed an adult-onset metachromatic leukodystrophy with a novel mutation in the arylsulfatase A gene.
[Mh] Termos MeSH primário: Encéfalo/diagnóstico por imagem
Cerebrosídeo Sulfatase/genética
Demência/genética
Leucodistrofia Metacromática/genética
Mutação de Sentido Incorreto
[Mh] Termos MeSH secundário: Idade de Início
Análise Mutacional de DNA
Demência/diagnóstico por imagem
Diagnóstico Diferencial
Éxons
Seres Humanos
Leucodistrofia Metacromática/diagnóstico por imagem
Masculino
Meia-Idade
Testes Neuropsicológicos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.6.8 (Cerebroside-Sulfatase)
[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:160219
[St] Status:MEDLINE
[do] DOI:10.3233/JAD-150819


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[PMID]:26825355
[Au] Autor:Miskin C; Melvin JJ; Legido A; Wenger DA; Harasink SM; Khurana DS
[Ad] Endereço:Section of Neurology, St Christopher's Hospital for Children, Philadelphia, Pennsylvania; Department of Pediatrics, Drexel University College of Medicine, Philadelphia, Pennsylvania.
[Ti] Título:A Patient With Atypical Multiple Sulfatase Deficiency.
[So] Source:Pediatr Neurol;57:98-100, 2016 Apr.
[Is] ISSN:1873-5150
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Multiple sulfatase deficiency is an autosomal recessive lysosomal storage disorder characterized by the absence of several sulfatases and resulting from mutations in the gene encoding the human C (alpha)-formylglycine-generating enzyme. There have been a variety of biochemical and clinical presentations reported in this disorder. PATIENT DESCRIPTION: We present a 4-year-old girl with clinical findings of microcephaly, spondylolisthesis and neurological regression without ichthyosis, coarse facies, and organomegaly. RESULTS: The child's magnetic resonance imaging demonstrated confluent white matter abnormalities involving the periventricular and deep cerebral white matter with the U-fibers relatively spared. Biochemical testing showing low arylsulfatase A levels were initially thought to be consistent with a diagnosis of metachromatic leukodystrophy. The diagnosis of multiple sulfatase deficiency was pursued when genetic testing for metachromatic leukodystrophy was negative. CONCLUSION: This child illustrates the clinical heterogeneity of multiple sulfatase deficiency and that this disorder can occur without the classic clinical features.
[Mh] Termos MeSH primário: Doença da Deficiência de Múltiplas Sulfatases/diagnóstico por imagem
Substância Branca/diagnóstico por imagem
[Mh] Termos MeSH secundário: Cerebrosídeo Sulfatase/sangue
Pré-Escolar
Feminino
Glicina/análogos & derivados
Glicina/genética
Seres Humanos
Imagem por Ressonância Magnética
Doença da Deficiência de Múltiplas Sulfatases/sangue
Doença da Deficiência de Múltiplas Sulfatases/fisiopatologia
Mutação/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
11F24CG16M (N-formylglycine); EC 3.1.6.8 (Cerebroside-Sulfatase); TE7660XO1C (Glycine)
[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:160131
[St] Status:MEDLINE


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[PMID]:26577183
[Au] Autor:Ben Halim N; Dorboz I; Kefi R; Kharrat N; Eymard-Pierre E; Nagara M; Romdhane L; Ben Alaya-Bouafif N; Rebai A; Miladi N; Boespflug-Tanguy O; Abdelhak S
[Ad] Endereço:Laboratoire de Génomique Biomédicale et Oncogénétique, Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, 1002, Tunis, Belvédère, Tunisia. benhalim_nizar@yahoo.fr.
[Ti] Título:Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population.
[So] Source:Neurol Sci;37(3):403-9, 2016 Mar.
[Is] ISSN:1590-3478
[Cp] País de publicação:Italy
[La] Idioma:eng
[Ab] Resumo:Arylsulfatase A (ASA) is a lysosomal enzyme involved in the catabolism of cerebroside sulfate. ASA deficiency is associated with metachromatic leukodystrophy (MLD). Low ASA activities have also been reported in a more common condition with no apparent clinical consequences termed ASA pseudo-deficiency (ASA-PD) which is associated with two linked mutations in the ASA gene (c.1049A>G and c.*96A>G). This study aimed to investigate the frequency of the two ASA-PD variants and their linkage disequilibrium (LD) among Tunisians. ASA-PD variants were detected in 129 healthy Tunisians and their frequencies were compared to those described worldwide. The frequency of the PD allele was estimated at 17.4% for the overall sample, with c.1049A>G and c.*96A>G frequencies of 25.6 and 17.4%, respectively. This study also revealed a high LD between the two ASA-PD variants (r(2) = 0.61). Inter-population analysis revealed similarities in the ASA-PD genetic structure between Tunisians and populations from Middle East with c.*96A>G frequencies being the highest in the world. A significant North vs. South genetic differentiation in the ASA-PD frequency was also observed in Tunisian population who seems genetically intermediate between Africans, Middle-Easterners and Europeans. This is the first report on the allele frequency of the ASA-PD in North Africa, revealing a relatively high frequency of the PD allele among Tunisians. This study gives also evidence on the importance of discriminating ASA-PD allele from pathological mutations causing MLD and supporting enzymatic activity testing with both sulfatiduria determination and genetic testing in the differential diagnosis of MLD in the Tunisian population.
[Mh] Termos MeSH primário: Cerebrosídeo Sulfatase/deficiência
Cerebrosídeo Sulfatase/genética
Frequência do Gene
[Mh] Termos MeSH secundário: Adulto
Grupo com Ancestrais do Continente Africano/genética
Alelos
Grupo com Ancestrais do Continente Europeu/genética
Técnicas de Genotipagem
Haplótipos
Seres Humanos
Desequilíbrio de Ligação
Mutação
Polimorfismo Genético
Prevalência
Análise de Componente Principal
Tunísia/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 3.1.6.8 (Cerebroside-Sulfatase)
[Em] Mês de entrada:1612
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151119
[St] Status:MEDLINE
[do] DOI:10.1007/s10072-015-2417-5


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[PMID]:26462614
[Au] Autor:Cesani M; Lorioli L; Grossi S; Amico G; Fumagalli F; Spiga I; Filocamo M; Biffi A
[Ad] Endereço:San Raffaele Telethon Institute for Gene Therapy, Division of Regenerative Medicine, Stem Cells and Gene Therapy, San Raffaele Scientific Institute, Milan, Italy.
[Ti] Título:Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.
[So] Source:Hum Mutat;37(1):16-27, 2016 Jan.
[Is] ISSN:1098-1004
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Metachromatic leukodystrophy is a neurodegenerative disorder characterized by progressive demyelination. The disease is caused by variants in the ARSA gene, which codes for the lysosomal enzyme arylsulfatase A, or, more rarely, in the PSAP gene, which codes for the activator protein saposin B. In this Mutation Update, an extensive review of all the ARSA- and PSAP-causative variants published in the literature to date, accounting for a total of 200 ARSA and 10 PSAP allele types, is presented. The detailed ARSA and PSAP variant lists are freely available on the Leiden Online Variation Database (LOVD) platform at http://www.LOVD.nl/ARSA and http://www.LOVD.nl/PSAP, respectively.
[Mh] Termos MeSH primário: Cerebrosídeo Sulfatase/genética
Estudos de Associação Genética
Leucodistrofia Metacromática/genética
Mutação
Saposinas/genética
[Mh] Termos MeSH secundário: Alelos
Bases de Dados Genéticas
Genótipo
Seres Humanos
Leucodistrofia Metacromática/diagnóstico
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Nome de substância:
0 (PSAP protein, human); 0 (Saposins); EC 3.1.6.8 (Cerebroside-Sulfatase)
[Em] Mês de entrada:1610
[Cu] Atualização por classe:170203
[Lr] Data última revisão:
170203
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:151015
[St] Status:MEDLINE
[do] DOI:10.1002/humu.22919



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