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Titolo:
Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients
Autore:
Perkins, KJ; Muller, V; Weber, B; Hopwood, JJ;
Indirizzi:
Womens & Childrens Hosp, Dept Chem Pathol, Lysosomal Storage Res Unit, Adelaide, SA 5006, Australia Womens & Childrens Hosp Adelaide SA Australia 5006 de, SA 5006, Australia
Titolo Testata:
MOLECULAR GENETICS AND METABOLISM
fascicolo: 4, volume: 73, anno: 2001,
pagine: 306 - 312
SICI:
1096-7192(200108)73:4<306:POSPSF>2.0.ZU;2-H
Fonte:
ISI
Lingua:
ENG
Soggetto:
RECOMBINANT HUMAN SULFAMIDASE; A-SYNDROME; MUTATIONS; IDENTIFICATION; EXPRESSION; GENE; PURIFICATION; KINETICS; DEFECTS; TRAITS;
Keywords:
mucopolysaccharidosis type IIIA; sulfamidase protein quantification; clinical severity; Sanfilippo phenotype;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
18
Recensione:
Indirizzi per estratti:
Indirizzo: Hopwood, JJ Womens & Childrens Hosp, Dept Chem Pathol, Lysosomal Storage Res Unit, 72 King William Rd, Adelaide, SA 5006, Australia Womens & Childrens Hosp 72 King William Rd Adelaide SA Australia 5006
Citazione:
K.J. Perkins et al., "Prediction of Sanfilippo phenotype severity from immunoquantification of heparan-N-sulfamidase in cultured fibroblasts from mucopolysaccharidosis type IIIA patients", MOL GEN MET, 73(4), 2001, pp. 306-312

Abstract

Mucopolysaccharidosis type IIIA (MPS-IIIA.) is an autosomal recessive lysosomal storage disorder caused by the deficiency of heparan-N-sulfamidase (NS; EC 3.10.1.1), resulting in defective degradation and subsequent storage of heparan sulfate and leading to a clinical phenotype known as Sanfilippo syndrome. A sensitive and specific monoclonal/polyclonal-based immunoquantification assay has enabled the determination of NS protein, down to similarto3 pg NS protein, in cultured fibroblasts from control and MPS-IIIA patients. Cultured skin fibroblasts from 15 normal controls contained 11.9 to 105 ng of NS protein/mg extracted cell protein, whereas NS protein ranged from "none detected" to 11 ng/mg in fibroblasts from 35 MPS-IIIA patients. A relationship between genotype/phenotype and amount of NS protein present in these MPS-IIIA fibroblasts was established. Immunoquantification, in combination with a specific and highly sensitive tetrasaccharide-based assay of NS activity, enabled the determination of residual specific NS activity in these fibroblasts. Specific NS activity ranged from 28 to 1289 nmol/min/mg NS protein for MPS-IIIA patients, compared to 870 nmol/min/mg of recombinanthuman NS. It is proposed that this immunoquantification method, in conjunction with the specific NS activity assay, may be used to predict clinical severity in MPS-IIIA patients, allowing for the selection of individuals best suited for gene- and enzyme-replacement therapy when these methods becomeavailable. Also proposed is that an enzyme-replacement therapy achieving acorrection of approximately 10% of normal NS activity is required to avoidthe onset of a Sanfilippo clinical phenotype. (C) 2001 Academic Press.

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Documento generato il 25/01/20 alle ore 18:56:54