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Founder mutation in Parkinson's disease presented on 12/10/08

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Based on paper by Nuytemans, K. & et. al. from European Journal of Human Genetics 16: 471-479.

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Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson’s disease patients Presented by: Pearl Pfiester 12.10.08
LRRK2 Gene ,[object Object],[object Object],[object Object]
Why study LRRK2 Gene? ,[object Object],[object Object],[object Object],[object Object],[object Object]
Objective ,[object Object]
Signal Transduction ,[object Object],[object Object],[object Object],[object Object]
Subjects ,[object Object],[object Object],[object Object]
Gene Sequencing ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Haplotype Analysis ,[object Object],[object Object],[object Object]
Results ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
Results Reported and novel coding mutations in the LRRK2 Roc and kinase domains. Symbols: red stars = putative pathogenic missense mutations detected in the Flanders-Belgian PD population (6 out of 10 carriers) green stars = novel rare variants (4 out of 10 carriers) yellow stars = known polymorphisms
Data on protein conservation of all coding mutations in the LRRK2 Roc and kinase domains
Results for p.R1441C ,[object Object],[object Object]
Results ,[object Object],[object Object],[object Object]
Results for p.R1441C ,[object Object],[object Object],[object Object],[object Object],[object Object]
Results for p.R1441C
Results: Allele and Haplotype Analysis for p.R1441C
Results for Novel Mutations
Results for Novel Mutations
Conclusion ,[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object],[object Object]
 

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Founder mutation in Parkinson's disease presented on 12/10/08

  • 1. Founder mutation p.R1441C in the leucine-rich repeat kinase 2 gene in Belgian Parkinson’s disease patients Presented by: Pearl Pfiester 12.10.08
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  • 10. Results Reported and novel coding mutations in the LRRK2 Roc and kinase domains. Symbols: red stars = putative pathogenic missense mutations detected in the Flanders-Belgian PD population (6 out of 10 carriers) green stars = novel rare variants (4 out of 10 carriers) yellow stars = known polymorphisms
  • 11. Data on protein conservation of all coding mutations in the LRRK2 Roc and kinase domains
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  • 16. Results: Allele and Haplotype Analysis for p.R1441C
  • 17. Results for Novel Mutations
  • 18. Results for Novel Mutations
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