NA00203
DNA from Fibroblast
Description:
SANDHOFF DISEASE
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Lipid Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
8 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| beta-N-acetylhexosaminidase (hexosaminidase A) |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.52 |
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| beta-N-acetylhexosaminidase (hexosaminidase B) |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.2.1.52 |
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| Remarks |
Deficient hexosaminidase A and B; 46,XY; < 1% of normal fibroblast pre B-chain mRNA; Hex B gene shows no gross abnormalities |
| Batista L, Miller F, Clave C, Arfi A, Douillard-Guilloux G, Couraud PO, Caillaud C, Induced secretion of beta-hexosaminidase by human brain endothelial cells: a novel approach in Sandhoff disease? Neurobiology of disease37:656-60 2009 |
| PubMed ID: 20005954 |
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| Arfi A, Zisling R, Richard E, Batista L, Poenaru L, Futerman AH, Caillaud C, Reversion of the biochemical defects in murine embryonic Sandhoff neurons using a bicistronic lentiviral vector encoding hexosaminidase alpha and beta Journal of neurochemistry96:1572-9 2006 |
| PubMed ID: 16441513 |
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| Glaros EN, Kim WS, Quinn CM, Wong J, Gelissen I, Jessup W, Garner B, Glycosphingolipid accumulation inhibits cholesterol efflux via the ABCA1/apolipoprotein A-I pathway: 1-phenyl-2-decanoylamino-3-morpholino-1-propanol is a novel cholesterol efflux accelerator The Journal of biological chemistry280:24515-23 2005 |
| PubMed ID: 15890646 |
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| Brown CA, McInnes B, de Kremer RD, Mahuran DJ, Characterization of two HEXB gene mutations in Argentinean patients with Sandhoff disease. Biochim Biophys Acta1180:91-8 1992 |
| PubMed ID: 1390948 |
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| O'Dowd BF, Klavins MH, Willard HF, Gravel R, Lowden JA, Mahuran DJ, Molecular heterogeneity in the infantile and juvenile forms of Sandhoff disease (O-variant GM2 gangliosidosis). J Biol Chem261:12680-5 1986 |
| PubMed ID: 3017984 |
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| Coetzee GA, van der Westhuyzen DR, Berger GM, Henderson HE, Gevers W, Low density lipoprotein metabolism in cultured fibroblasts from a new group of patients presenting clinically with homozygous familial hypercholesterolemia. Arteriosclerosis2:303-11 1982 |
| PubMed ID: 6287984 |
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| Miller AL, Kress BC, Stein R, Kinnon C, Kern H, Schneider JA, Harms E, Properties of N-acetyl-beta-D-hexosaminidase from isolated normal and I- cell lysosomes. J Biol Chem256:9352-62 1981 |
| PubMed ID: 7263719 |
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| Pullarkat RK, Reha H, Beratis NG, Ganglioside accumulation in cultured skin fibroblasts from gangliosidosis patients. Biochem Biophys Res Commun92:149-54 1980 |
| PubMed ID: 7356448 |
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| Wood S, Juvenile Sandhoff Disease: complementation tests with Sandhoff and Tay- Sachs disease using polyethylene glycol-induced cell fusion. Hum Genet41:325-9 1978 |
| PubMed ID: 417993 |
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| MacLeod PM, Wood S, Jan JE, Applegarth DA, Dolman CL, Progressive cerebellar ataxia, spasticity, psychomotor retardation, and hexosaminidase deficiency in a 10-year-old child: juvenile Sandhoff disease. Neurology27:571-3 1977 |
| PubMed ID: 559267 |
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| Rattazzi MC, Brown JA, Davidson RG, Shows TB, Studies on complementation of beta hexosaminidase deficiency in human GM2 gangliosidosis. Am J Hum Genet28:143-54 1976 |
| PubMed ID: 817596 |
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| Wood S, MacDougall BG, Juvenile Sandhoff disease: some properties of the residual hexosaminidase in cultured fibroblasts. Am J Hum Genet28:489-95 1976 |
| PubMed ID: 10724 |
| dbSNP |
dbSNP ID: 17944 |
| NCBI GTR |
268800 SANDHOFF DISEASE |
| OMIM |
268800 SANDHOFF DISEASE |
| Omim Description |
GM2-GANGLIOSIDOSIS, TYPE II |
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HEXOSAMINIDASES A AND B DEFICIENCY; HEXB-HEXOSAMINIDASE B, INCLUDED; HEXB, INCLUDED |
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SANDHOFF DISEASE |
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SANDHOFF DISEASE, ADULT TYPE, INCLUDED |
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SANDHOFF DISEASE, INFANTILE TYPE, INCLUDED |
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SANDHOFF DISEASE, JUVENILE TYPE, INCLUDED |
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