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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Black/African American
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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 |
6 |
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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; 0.3% activity. |
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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; < 1% of normal fibroblast pre B-chain mRNA; 0.3% of normal fibroblast Hex A activity; Hex B gene shows a partial gene deletion localized to the 5' end |
| Bourgoin C, Emiliani C, Kremer EJ, Gelot A, Tancini B, Gravel RA, Drugan C, Orlacchio A, Poenaru L, Caillaud C, Widespread distribution of beta-hexosaminidase activity in the brain of a Sandhoff mouse model after coinjection of adenoviral vector and mannitol Gene therapy10:1841-9 2003 |
| PubMed ID: 12960974 |
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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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| Bladon MT, The expression of hex A and hex B isozymes of hexosaminidase in parental and experimental human fibroblast cells and their components. Biochem Genet19:971-86 1981 |
| PubMed ID: 7332532 |
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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: 13803 |
| 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 |
6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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