Through bioinformatic analysis, we predicted that rs823128, rs1572931, and rs823156 as noncoding variants of NUCKS1, RAB29, and SLC41A1, respectively, might affect PD risk by altering the transcription factor-binding capability of the genes.
Subjects Five single-nucleotide polymorphisms (SNPs) located between RAB7L1 and SLC41A1 were analyzed in 720 patients with PD and 642 controls, all of Ashkenazi Jewish origin.
Here, we demonstrate that the substitution p.A350V potentially associated with PD is a gain-of-function mutation that enhances a core function of SLC41A1, namely Na⁺-dependent Mg²⁺ efflux by 69±10% under our experimental conditions (10-minute incubation in high-Na⁺ (145 mM) and completely Mg²⁺-free medium).