LRRK2 gene
The LRRK2 gene provides instructions for making the protein dardarin, which is involved in cellular signaling and structural organization.
Normal Function
The LRRK2 gene provides instructions for making a protein called dardarin. This protein is active in the brain and other tissues. Dardarin contains a leucine-rich region that facilitates protein-protein interactions, such as transmitting signals or helping assemble the cell's structural framework (cytoskeleton). Additionally, dardarin possesses two enzyme functions:
- Kinase activity: Assists in phosphorylation, an essential step in turning cell activities on and off.
- GTPase activity: Associated with the ROC domain, this function helps control the overall shape of the protein.
Health Conditions Related to Genetic Changes
Parkinson's disease
More than 100 LRRK2 gene mutations have been identified in families with late-onset Parkinson's disease. These mutations affect the structure and function of the dardarin protein. Notable findings include:
- Arg1441Gly (R1441G): A relatively common cause of Parkinson's disease in the Basque region. The name "dardarin" is derived from the Basque word for "tremor."
- Gly2019Ser (G2019S): A common mutation found in 3 to 7 percent of familial Parkinson's cases, with the highest incidence among North African Arabs and Ashkenazi Jewish populations.
- Gly2385Arg (G2385R): Identified in Chinese and Japanese populations, this mutation appears to increase the risk of Parkinson's disease.
