Fourteen percent of Parkinson's patients with no known mutation show LRRK2 activation
Fourteen percent of Parkinson's disease patients with no known mutation showed elevated activity in the LRRK2 pathway, researchers reported in npj Parkinson's Disease. The team measured Rab10 phosphorylation in blood neutrophils from 181 patients and 71 controls, screening for rare variants by whole-exome sequencing. Patients carrying the VPS35 p.D620N mutation set the reference level for pathway activation. A knockdown screen in A549 cells flagged candidate modifiers of LRRK2 signaling, among them NECAP2.
Clinicians building Parkinson's trial cohorts could use this to find patients with elevated LRRK2 signaling but no known mutation.
Written by the Genomes desk from the primary source cited and linked above and checked against it. Research use only; not medical advice. Corrections: [email protected].