New Study Finds RAB32 Gene Linked to Family Cases of Parkinson's Disease

Despite progress, most genetic causes of familial Parkinson’s disease remain unidentified. To find these, researchers analyzed the exome sequences of 2,184 familial PD cases and 69,775 controls. They discovered a new gene, RAB32, linked to PD. A specific variant, c.213C > G/p.S71R, was found in about 0.7% of familial PD cases but only in 0.004% of controls, indicating a high risk. This variant increases the activity of LRRK2, a protein involved in PD. The study suggests that targeting this pathway could lead to new PD treatments.