ND30623
DNA from Whole Blood
Description:
ASYMPTOMATIC OR UNDIAGNOSED AND GENETICALLY RELATED TO AN AFFECTED INDIVIDUAL
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Repository
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NINDS Repository
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| Subcollection |
Parkinsonism |
| Quantity |
3 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Sample Source
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DNA from Whole Blood
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Race
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White
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Subject Type
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parent/child discordant pair
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Family Type
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NUCLEAR FAMILIES - ONE AFFECTED
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Ethnicity
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Not Hispanic/Latino
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Country of Origin
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USA
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Family Member
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2
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Family History
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N
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Relation to Proband
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son
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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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Note
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This material represents a finite resource (DNA from Whole Blood)
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| Gene |
LRRK2 |
| Chromosomal Location |
12q12 |
| Allelic Variant 1 |
609007.0006; PARKINSON DISEASE 8 |
| Identified Mutation |
GLY2019SER; In affected members of 4 of 61 (6.6%) unrelated families with autosomal dominant Parkinson disease (607060), Di Fonzo et al. [Lancet 365: 412-415 (2005)] identified a heterozygous 6055G-A transition in exon 41 of the LRRK2 gene, resulting in a gly2019-to-ser (G2019S) substitution. Two families were from Italy, and one each were from Portugal and Brazil. The gly2019 residue gly2019 residue is part of a highly conserved DFG-like motif (DYG in LRRK2) at the N terminus of the kinase activation segment of the protein. As residues in and around the DFG-like motif are important for proper positioning of magnesium and phosphates, mutations in this area may impair kinase activity. |
| Cooper O, Seo H, Andrabi S, Guardia-Laguarta C, Graziotto J, Sundberg M, McLean JR, Carrillo-Reid L, Xie Z, Osborn T, Hargus G, Deleidi M, Lawson T, Bogetofte H, Perez-Torres E, Clark L, Moskowitz C, Mazzulli J, Chen L, Volpicelli-Daley L, Romero N, Jiang H, Uitti RJ, Huang Z, Opala G, Scarffe LA, Dawson VL, Klein C, Feng J, Ross OA, Trojanowski JQ, Lee VM, Marder K, Surmeier DJ, Wszolek ZK, Przedborski S, Krainc D, Dawson TM, Isacson O, Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease Science translational medicine4:141ra90 2012 |
| PubMed ID: 22764206 |
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