Description:
PARKINSON DISEASE
|
Repository
|
NINDS Repository
|
| Subcollection |
Parkinsonism |
| Quantity |
20 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
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|
Cell Type
|
B-Lymphocyte
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|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Subject Type
|
family with at least 3 members, including 1 proband, not a trio
|
|
Family Type
|
OTHER - ONE AFFECTED
|
|
Ethnicity
|
Not Hispanic/Latino
|
|
Country of Origin
|
USA
|
|
Family Member
|
1
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
| Gene |
PARK2 |
| Chromosomal Location |
6q25.2-q27 |
| Allelic Variant 1 |
; |
| Identified Mutation |
ARG42PRO |
| |
| Gene |
PARK2 |
| Chromosomal Location |
6q25.2-q27 |
| Allelic Variant 2 |
602544.0005; PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE |
| Identified Mutation |
EX3DEL; To determine the frequency of deletions in the PARK2 gene, Lucking et al. (1998) searched for homozygous deletions in the PARK2 gene in 12 PARK2-linked families with autosomal recessive juvenile parkinsonism (600116) and known or suspected consanguinity (a total of 32 patients). Five of the families originated from Italy, 4 from France, 1 from the Netherlands, 1 from Portugal, and 1 from Algeria. Six of the families had previously been reported by Tassin et al. (1998). They found 2 novel homozygous deletions in 8 patients from 3 families. The Algerian family carried a deletion of exons 8 and 9. Deletions of exon 3 were found in 1 French and 1 Portuguese family. Deletions in the PARK2 gene accounted, therefore, for only a quarter of the PARK2-linked families with known or suspected consanguinity, which suggested that point mutations may be more prominent. Mean age at onset and clinical severity were similar in the deleted and nondeleted families. The overall clinical features were also similar, except that patients with exon 3 deletions had significantly lower frequencies of tremor than the nondeleted patients, a significantly later mean age at onset than those with exon 8-9 deletions, and a trend toward greater severity for similar disease durations. Both deletions were expected to cause frameshifts introducing a premature stop codon and resulting in truncated proteins with probable loss of function. The exon 3 deletion might have more harmful effects, leading to a shorter truncated protein, since these patients were more severely affected. The exon 8-9 deletion was, however, associated with earlier age at onset, as if the less truncated protein resulted in an additional toxic effect. |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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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