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GM00879 Fibroblast

Description:

MUCOPOLYSACCHARIDOSIS TYPE IIIA
N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH

Affected:

Yes

Sex:

Female

Age:

3 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links
  • Images
  • Culture Protocols

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of Carbohydrate Metabolism
Cell Type Fibroblast
Transformant Untransformed
Race White
Family Member 1
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Deficient heparan sulfate sulfatase; donor subject is a compound heterozygote; one allele carries a missense mutation (G>A) at nucleotide 1351 (1351G>A) in the SGSH gene [Glu447Lys (E447K)]; the other carries a G>A transition at nucleotide 746(746G>A) [Arg245His ( R245H)]

Characterizations

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PDL at Freeze 5.89
Passage Frozen 10
 
N-sulfoglucosamine sulfohydrolase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.10.1.1
 
Gene SGSH
Chromosomal Location 17q25.3
Allelic Variant 1 605270.0006; SANFILIPPO SYNDROME A
Identified Mutation GLU447LYS; In a patient with Sanfilippo syndrome A (252900), Blanch et al. (1997) found a G-to-A transition at nucleotide 1351 of the SGSH gene, which resulted in a glu447-to-lys (E447K) amino acid substitution. They found this mutation in compound heterozygosity with the R245H mutation (605270.0001).
 
Gene SGSH
Chromosomal Location 17q25.3
Allelic Variant 2 605270.0001; SANFILIPPO SYNDROME A
Identified Mutation ARG245HIS; A G-to-A transition at nucleotide position 746 of the sulfamidase gene is responsible for the missense mutation which changes arginine-245 to a histidine (R245H).

Phenotypic Data

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Remarks Deficient heparan sulfate sulfatase; donor subject is a compound heterozygote; one allele carries a missense mutation (G>A) at nucleotide 1351 (1351G>A) in the SGSH gene [Glu447Lys (E447K)]; the other carries a G>A transition at nucleotide 746(746G>A) [Arg245His ( R245H)]

Publications

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Karolina Wiśniewska, Estera Rintz, Magdalena Żabińska, Lidia Gaffke, Magdalena Podlacha, Zuzanna Cyske, Grzegorz Węgrzyn, Karolina Pierzynowska, Comprehensive evaluation of pathogenic protein accumulation in fibroblasts from all subtypes of Sanfilippo disease patients Biochemical and Biophysical Research Communications733: 2024
PubMed ID: 39305572
 
Wisniewska K, Gaffke L, Zabinska M, Wegrzyn G, Pierzynowska K, Cellular Organelle-Related Transcriptomic Profile Abnormalities in Neuronopathic Types of Mucopolysaccharidosis: A Comparison with Other Neurodegenerative Diseases Current issues in molecular biology46:2678-2700 2024
PubMed ID: 38534785
 
Wisniewska K, Zabinska M, Gaffke L, Szulc A, Walter BM, Wegrzyn G, Pierzynowska K, Shared Gene Expression Dysregulation Across Subtypes of Sanfilippo and Morquio Diseases: The Role of PFN1 in Regulating Glycosaminoglycan Levels Frontiers in bioscience (Landmark edition)29:415 2024
PubMed ID: 39735993
 
Gaffke L, Pierzynowska K, Cyske Z, Podlacha M, Wegrzyn G, Contribution of vesicle trafficking dysregulation to the pathomechanism of mucopolysaccharidosis Biochemical and biophysical research communications665:107-117 2023
PubMed ID: 37149983
 
Zabinska M, Gaffke L, Bielanska P, Podlacha M, Rintz E, Cyske Z, Wegrzyn G, Pierzynowska K, Decreased Levels of Chaperones in Mucopolysaccharidoses and Their Elevation as a Putative Auxiliary Therapeutic Approach Pharmaceutics15:107-117 2023
PubMed ID: 36840025
 
Cyske Z, Gaffke L, Pierzynowska K, Wegrzyn G, Complex Changes in the Efficiency of the Expression of Many Genes in Monogenic Diseases, Mucopolysaccharidoses, May Arise from Significant Disturbances in the Levels of Factors Involved in the Gene Expression Regulation Processes Genes13:107-117 2022
PubMed ID: 35456399
 
Rintz E, Podlacha M, Cyske Z, Pierzynowska K, Wegrzyn G, Gaffke L, Activities of (Poly)phenolic Antioxidants and Other Natural Autophagy Modulators in the Treatment of Sanfilippo Disease: Remarkable Efficacy of Resveratrol in Cellular and Animal Models Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics13:107-117 2022
PubMed ID: 36344724
 
Gaffke L, Szczudlo Z, Podlacha M, Cyske Z, Rintz E, Mantej J, Krzelowska K, Wegrzyn G, Pierzynowska K, Impaired ion homeostasis as a possible associate factor in mucopolysaccharidosis pathogenesis: transcriptomic, cellular and animal studies Metabolic brain disease37:299-310 2021
PubMed ID: 34928474
 
Pierzynowska K, Zabinska M, Gaffke L, Cyske Z, Wegrzyn G, Changes in expression of signal transduction-related genes, and formation of aggregates of GPER1 and OXTR receptors in mucopolysaccharidosis cells European journal of cell biology101:151232 2021
PubMed ID: 35537249
 
Wisniewska K, Gaffke L, Krzelowska K, Wegrzyn G, Pierzynowska K, Differences in gene expression patterns, revealed by RNA-seq analysis, between various Sanfilippo and Morquio disease subtypes Gene812:146090 2021
PubMed ID: 34896230
 
Gaffke L, Pierzynowska K, Krzelowska K, Piotrowska E, Wegrzyn G, Changes in expressions of genes involved in the regulation of cellular processes in mucopolysaccharidoses as assessed by fibroblast culture-based transcriptomic analyses Metabolic brain disease812:146090 2020
PubMed ID: 32886284
 
Gaffke L, Pierzynowska K, Rintz E, Cyske Z, Giecewicz I, Wegrzyn G, Gene Expression-Related Changes in Morphologies of Organelles and Cellular Component Organization in Mucopolysaccharidoses International journal of molecular sciences22:146090 2020
PubMed ID: 33803318
 
Brokowska J, Pierzynowska K, Gaffke L, Rintz E, Wegrzyn G, Expression of genes involved in apoptosis is dysregulated in mucopolysaccharidoses as revealed by pilot transcriptomic analyses Cell biology international22:146090 2019
PubMed ID: 32125037
 
Gaffke L, Pierzynowska K, Podlacha M, Hoinkis D, Rintz E, Brokowska J, Cyske Z, Wegrzyn G, Underestimated Aspect of Mucopolysaccharidosis Pathogenesis: Global Changes in Cellular Processes Revealed by Transcriptomic Studies International journal of molecular sciences21:146090 2019
PubMed ID: 32054071
 
Gustavsson S, Ohlin Sjöström E, Tjernberg A, Janson J, Westermark U, Andersson T, Makower Å, Arnelöf E, Andersson G, Svartengren J, Ekholm C, Svensson Gelius S, Intravenous delivery of a chemically modified sulfamidase efficiently reduces heparan sulfate storage and brain pathology in mucopolysaccharidosis IIIA mice Molecular genetics and metabolism reports21:100510 2019
PubMed ID: 31528541
 
Pierzynowska K, Gaffke L, Podlacha M, Wegrzyn G, Genetic Base of Behavioral Disorders in Mucopolysaccharidoses: Transcriptomic Studies International journal of molecular sciences21:100510 2019
PubMed ID: 32050523
 
Vallejo S, Fleischer A, Martín JM, Sánchez A, Palomino E, Bachiller D, Generation of two induced pluripotent stem cells lines from Mucopolysaccharydosis IIIA patient: IMEDEAi004-A and IMEDEAi004-B Stem Cell Research32:110-114 2018
PubMed ID: 30269021
 
Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ, Molecular defects in Sanfilippo syndrome type A. Hum Mol Genet6:787-91 1997
PubMed ID: 9158154
 
Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, Hopwood JJ, Novel mutations in Sanfilippo A syndrome: implications for enzyme function. Hum Mol Genet6:1573-1579 1997
PubMed ID: 9285796

External Links

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dbSNP dbSNP ID: 20102
Gene Cards SGSH
Gene Ontology GO:0005764 lysosome
GO:0006029 proteoglycan metabolism
GO:0008152 metabolism
GO:0008484 sulfuric ester hydrolase activity
GO:0016250 N-sulfoglucosamine sulfohydrolase activity
GO:0016787 hydrolase activity
GO:0030203 glycosaminoglycan metabolism
NCBI Gene Gene ID:6448
NCBI GTR 252900 MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A
605270 N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH
OMIM 252900 MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A
605270 N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH
Omim Description HEPARAN SULFATE SULFATASE DEFICIENCY
  HEPARAN SULFATE SULFATASE, INCLUDED; HSS, INCLUDED
  MPS IIIA
  MPS3A
  MUCOPOLYSACCHARIDOSIS TYPE IIIA
  SANFILIPPO SYNDROME A
  SULFAMIDASE DEFICIENCYN-SULFOGLUCOSAMINE SULFOHYDROLASE, INCLUDED; SGSH, INCLUDED
  SULFAMIDASE, INCLUDED

Images

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View pedigree 

Culture Protocols

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Passage Frozen 10
Split Ratio 1:3
Temperature 37 C
Percent CO2 5%
Percent O2 AMBIENT
Medium Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent
Serum 15% fetal bovine serum Not inactivated
Supplement -
Pricing
International/Commercial/For-profit:
$373.00USD
U.S. Academic/Non-profit/Government:
$216.00USD
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