Identification of a Novel LRRK2 Mutation, 6055G>A (G2019S), Linked to Autosomal Dominant Parkinsonism in Families from Several European Populations

Reference #:

2004-291

Inventors/Contributors

Matthew J. Farrer, Ph.D., Zbigniew K. Wszolek, M.D.

Description

Pathogenic mutations of the Leucine-Rich Repeat Kinase 2 (LRRK2) enzyme are recognized as the most frequent genetic cause of both familial and sporadic parkinsonism. Mayo Clinic researchers were the first to identify this association and have gone on to develop an in-depth understanding of LRRK2 function as well as numerous tools to help identify therapeutic agents to modulate LRRK2 activity. Application Knowledge, assays, and models to develop therapeutic inhibitors of LRRK2 for treatment of Parkinsons Disease. Stage of Development Mayo Clinic has developed numerous cell lines, antibodies, and animal models related to LRRK2 including: antibodies (monoclonal and polyclonal), LRRK2 knockout mice, human LRRK2 transgenic mice (wildtype and various mutants), and inducible transgenic mice (LRRK2 mutants). Mayo Clinic has also developed a high-throughput cell-based assay for screening for inhibitors of LRRK2.

Patent Status

	Norway Patent Number 323175 Issued January 15, 2007 U.S. Patent Number 7,544,786 Issued June 09, 2009