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NA00372 DNA from Fibroblast

Description:

GAUCHER DISEASE, TYPE I
GLUCOSIDASE, ACID BETA; GBA

Affected:

Yes

Sex:

Male

Age:

29 YR (At Sampling)

  • Overview
  • Characterizations
  • Phenotypic Data
  • Publications
  • External Links

Overview

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Repository NIGMS Human Genetic Cell Repository
Subcollection Heritable Diseases
Lysosomal Storage Diseases
Class Disorders of Lipid Metabolism
Quantity 10 µg
Quantitation Method Please see our FAQ
Biopsy Source Arm
Cell Type Fibroblast
Tissue Type Skin
Transformant Untransformed
Sample Source DNA from Fibroblast
Race White
Country of Origin USA
Relation to Proband proband
Confirmation Clinical summary/Case history
Species Homo sapiens
Common Name Human
Remarks Clinically affected; varying percentages of glucocerebrosidase activity (6%, 11.1%), B-glucosidase activity(4.1%, 16.1%), and glucosylsphingosine activity(9.6%) in this cell line have been reported in several publications - please refer to the publications tab on this sample page for more info; donor subject is a compound heterozygote for mutations in the gene encoding acid-beta glucosidase (GBA): one allele carries a single-base mutation (adenosine to guanosine transition) in exon 9 at position 1226 (1226A>G)of the glucocerebrosidase gene which results in the amino acid substitution of serine for asparagine [Asn370Ser (N370S)]; the second allele carries an insertion of a second guanine at cDNA nucleotide 84 (84GG).

Characterizations

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PDL at Freeze 4.47
Passage Frozen 6
 
MUTATION VERIFICATION Reiner et al (DNA 7:107-116 1988) employed a glucocerebrosidase cDNA in a Northern blot analysis to show that the mRNA from this type III Gaucher disease patient had the same three RNA species (6 2.6 & 2.2 kb transcripts) as found in normal placenta. Wigderson et al (Am J Hum Genet 44:365-377 1989) characterized the human glucocerebrosidase gene from Gaucher disease patients. The results obtained with DNA from this cell culture showed this patient to be heterozygous for a mutant allele. The mutant allele has a T to C transition at codon 444 that causes a substitution of proline for leucine and creates a new NciI restriction site.
 
IDENTIFICATION OF SPECIES OF ORIGIN Species of Origin confirmed by LINE assay
 
glucosylceramidase According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.45; 6% activity.
 
Gene GBA
Chromosomal Location 1q21
Allelic Variant 1 606463.0003; GAUCHER DISEASE, TYPE I
Identified Mutation ASN370SER; By nucleotide sequence analysis of a genomic clone from an Ashkenazi Jewish patient with type I, Tsuji et al. [Proc. Nat. Acad. Sci. 85: 2349-2352 (1988] found a single-base mutation (adenosine to guanosine transition) in exon 9 of the glucocerebrosidase gene. This change resulted in the amino acid substitution of serine for asparagine. Transient expression studies following oligonucleotide-directed mutagenesis of the normal cDNA confirmed that the mutation results in loss of glucocerebrosidase activity. This mutation [1226G (N370S)] accounts for approximately 70% of mutations in the Jewish population.
 
Gene GBA
Chromosomal Location 1q21
Allelic Variant 2 606463.0014; GAUCHER DISEASE, TYPE I
Identified Mutation 1-BP INS, 84G; Beutler et al. [Proc. Nat. Acad. Sci. 88: 10544-10547 (1991)] found a second common Jewish Gaucher disease mutation in addition to the A-to-G mutation of nucleotide 1226, which accounts for about 75% of mutant alleles in Ashkenazi Jews (606463.0003). The new mutation consisted of insertion of a second guanine at cDNA nucleotide 84 and was referred to as the 84GG mutation. The 84GG and A1226G mutations, along with the less-common mutation at nucleotide 1448 (606463.0001), account for 95% of all Gaucher disease-producing alleles in Ashkenazi Jews.

Phenotypic Data

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Remarks Clinically affected; varying percentages of glucocerebrosidase activity (6%, 11.1%), B-glucosidase activity(4.1%, 16.1%), and glucosylsphingosine activity(9.6%) in this cell line have been reported in several publications - please refer to the publications tab on this sample page for more info; donor subject is a compound heterozygote for mutations in the gene encoding acid-beta glucosidase (GBA): one allele carries a single-base mutation (adenosine to guanosine transition) in exon 9 at position 1226 (1226A>G)of the glucocerebrosidase gene which results in the amino acid substitution of serine for asparagine [Asn370Ser (N370S)]; the second allele carries an insertion of a second guanine at cDNA nucleotide 84 (84GG).

Publications

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Montpeyo M, Pérez-Carmona N, Cubero E, Delgado A, Ruano A, Carrillo J, Bellotto M, Martinez-Vicente M, Garcia-Collazo AM, Developing Allosteric Chaperones for International journal of molecular sciences26: 2024
PubMed ID: 39795868
 
Tuyaa-Boustugue P, Jantzen I, Zhang H, Young SP, Broqua P, Tallandier M, Entchev E, Reduction of lysosome abundance and GAG accumulation after odiparcil treatment in MPS I and MPS VI models Molecular genetics and metabolism reports37:101011 2023
PubMed ID: 38053941
 
Akiyama T, Sato S, Ko SBH, Sano O, Sato S, Saito M, Nagai H, Ko MSH, Iwata H, Synthetic mRNA-based differentiation method enables early detection of Parkinson's phenotypes in neurons derived from Gaucher disease-induced pluripotent stem cells Stem cells translational medicine37:101011 2020
PubMed ID: 33342090
 
Zheng J, Jeon S, Jiang W, Burbulla LF, Ysselstein D, Oevel K, Krainc D, Silverman RB, Conversion of Quinazoline Modulators from Inhibitors to Activators of ß-Glucocerebrosidase Journal of medicinal chemistry37:101011 2019
PubMed ID: 30645117
 
Fog CK, Zago P, Malini E, Solanko LM, Peruzzo P, Bornaes C, Magnoni R, Mehmedbasic A, Petersen NHT, Bembi B, Aerts JFMG, Dardis A, Kirkegaard T, The heat shock protein amplifier arimoclomol improves refolding, maturation and lysosomal activity of glucocerebrosidase EBioMedicine38:142-153 2018
PubMed ID: 30497978
 
Cheng WC, Weng CY, Yun WY, Chang SY, Lin YC, Tsai FJ, Huang FY, Chen YR., Rapid modifications of N-substitution in iminosugars: development of new β-glucocerebrosidase inhibitors and pharmacological chaperones for Gaucher disease. Bioorg Med Chem.21(17):5021-8 2013
PubMed ID: 23880081
 
Sasagasako N, Kobayashi T, Yamaguchi Y, Shinnoh N, Goto I, Glucosylceramide and glucosylsphingosine metabolism in cultured fibroblasts deficient in acid beta-glucosidase activity. J Biochem (Tokyo)115:113-9 1994
PubMed ID: 8188616
 
Wigderson M, Firon N, Horowitz Z, Wilder S, Frishberg Y, Reiner O, Horowitz M, Characterization of mutations in Gaucher patients by cDNA cloning. Am J Hum Genet44:365-77 1989
PubMed ID: 2464926
 
Reiner O, Wigderson M, Horowitz M, Structural analysis of the human glucocerebrosidase genes. DNA7:107-16 1988
PubMed ID: 3359914
 
Reiner O, Wilder S, Givol D, Horowitz M, Efficient in vitro and in vivo expression of human glucocerebrosidase cDNA. DNA6:101-8 1987
PubMed ID: 2438102
 
Beutler E, Kuhl W, Glucocerebrosidase processing in normal fibroblasts and in fibroblasts from patients with type I, type II, and type III Gaucher disease. Proc Natl Acad Sci U S A83:7472-4 1986
PubMed ID: 3463977
 
Beutler E, Kuhl W, Sorge J, Cross-reacting material in Gaucher disease fibroblasts. Proc Natl Acad Sci U S A81:6506-10 1984
PubMed ID: 6593712
 
Choy FY, Gaucher disease: the effects of phosphatidylserine on glucocerebrosidase from normal and Gaucher fibroblasts. Hum Genet67:432-6 1984
PubMed ID: 6436168

External Links

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dbSNP dbSNP ID: 10334
Gene Cards GBA
Gene Ontology GO:0004348 glucosylceramidase activity
GO:0005764 lysosome
GO:0005975 carbohydrate metabolism
GO:0006665 sphingolipid metabolism
GO:0007040 lysosome organization and biogenesis
GO:0016020 membrane
GO:0016798 hydrolase activity, acting on glycosyl bonds
NCBI Gene Gene ID:2629
Gene ID:2630
NCBI GTR 230800 GAUCHER DISEASE, TYPE I; GD1
606463 GLUCOSIDASE, BETA, ACID; GBA
OMIM 230800 GAUCHER DISEASE, TYPE I; GD1
606463 GLUCOSIDASE, BETA, ACID; GBA
Omim Description ACID BETA-GLUCOSIDASE DEFICIENCY
  GAUCHER DISEASE, NONCEREBRAL JUVENILE
  GAUCHER DISEASE, TYPE I
  GBA DEFICIENCYGLUCOSIDASE, ACID BETA, INCLUDED; GBA, INCLUDED
  GD I
  GLUCOCEREBROSIDASE DEFICIENCY
  GLUCOCEREBROSIDASE PSEUDOGENE, INCLUDED; GBAP, INCLUDED
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International/Commercial/For-profit:
$281.00USD
U.S. Academic/Non-profit/Government:
$139.00USD
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