GM15844
LCL from B-Lymphocyte
Description:
PARKINSON DISEASE,FAMILIAL, TYPE 1; PARK1
SYNUCLEIN, ALPHA; SNCA
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of the Nervous System |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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LCL from B-Lymphocyte
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Race
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White
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Family Member
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3
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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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| 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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| Gene |
SNCA |
| Chromosomal Location |
4q21 |
| Allelic Variant 1 |
163890.0003; PARKINSON DISEASE, TYPE 1; PARK1 |
| Identified Mutation |
TRIPLICATION; By quantitative PCR amplification of SNCA exons in an individual with parkinsonism from a family reported by Waters and Miller [Ann. Neurol. 35: 59-64 (1994)], Singleton et al. [Science 302: 841 (2003)] found evidence consistent with whole gene triplication. The triplicated region contains an estimated 17 genes, including SNCA. Carriers of the triplication are predicted to have 4 fully functional copies of SNCA, with doubling of the effective load of the estimated 17 genes. The authors suggested that increased dosage of SNCA is the cause of PD in this family, and noted that the disease process may resemble the etiology of Alzheimer disease in Down syndrome (190685) with overexpression of the APP gene due to chromosome 21 trisomy. |
| Remarks |
At risk; normal examination with no complaints; brother recently died of diffuse Lewy body disease; affected mother; affected maternal uncle and aunt; affected cousins are GM15009 and GM15010; molecular characterization of this family found evidence consistent with whole gene triplication with the triplicated region containing an estimated 17 genes, including SNCA; carriers of the triplication are predicted to have 4 fully functional copies of SNCA, the increased dosage of SNCA suggested as the cause of PD in this family; this sample was formerly classified as PARK4 [605543]; this sample is also included in the NINDS Repository (ND00139) with additional family members |
| Gwinn-Hardy K, Mehta ND, Farrer M, Maraganore D, Muenter M, Yen SH, Hardy J, Dickson DW, Distinctive neuropathology revealed by alpha-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p. Acta Neuropathol (Berl)99(6):663-72 2000 |
| PubMed ID: 10867800 |
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| Waters CH, Miller CA, Autosomal dominant Lewy body parkinsonism in a four-generation family. Ann Neurol35(1):59-64 1994 |
| PubMed ID: 8285594 |
| Split Ratio |
1:4 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Roswell Park Memorial Institute Medium 1640 with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
dilution - add fresh medium |
| Supplement |
- |
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