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 |
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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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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 |
| Lopez ME, Wendt D, Lawrence R, Gong K, Ong H, Yip B, Chen J, Mangini L, Handyside B, Giaramita A, Lamichhane A, Lo M, Agrawal V, Van Vleet J, Abolhesn A, Felix JB, Villalpando I, Bhat V, De Angelis R, Ru Y, Khan A, Fong S, Christianson T, Bullens S, Crawford BE, Bunting S, Aoyagi-Scharber M, Intracerebroventricular administration of a modified hexosaminidase ameliorates late-stage neurodegeneration in a GM2 mouse model PloS one20:e0315005 2025 |
| PubMed ID: 39752451 |
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| 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 |
| 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 |
| Passage Frozen |
8 |
| 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 |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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