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Lack Of Evidence For Decreased Protein Stability In The 2397 (Met) Haplotype Of The Leucine Rich Repeat Kinase 2 Protein Implicated In Parkinson’S Disease, Ryan S. Anderton, Lauren Hill, Rhiannon Morris, Frank L. Mastaglia, Wayne Greene, Sherif Boulos

Health Sciences Papers and Journal Articles

Missense mutations in the leucine rich repeat kinase 2 (LRRK2) gene are the leading genetic cause of autosomal dominant familial Parkinson’s disease. We previously reported that two mutations within the ROC domain, namely R1441C and A1442P, exhibit increased protein degradation leading to lowered steady state LRRK2 protein levels in HEK293 cells. More recently, the common WD40 domain LRRK2 haplotype, Met2397, which is a risk factor for Crohn’s disease, has been shown to lower steady state protein levels in HEK293 cells. In view of recent evidence implicating LRRK2 and inflame-mation in PD, we investigated the effects of Met2397 on LRRK2 expression, …