Chia-Luen Leu, Daniel D Lam, Aaro V Salminen, Benedikt Wefers, Lore Becker, Lillian Garrett, Jan Rozman, Wolfgang Wurst, Martin Hrabě de Angelis, Sabine M Hölter, Juliane Winkelmann, Rhîannan H Williams
Restless legs syndrome (RLS) is a neurological disorder characterized by uncomfortable or unpleasant sensations in the legs during rest periods. To relieve these sensations, patients move their legs, causing sleep disruption. While the pathogenesis of RLS has yet to be resolved, there is a strong genetic association to the MEIS1 gene. A missense variant in MEIS1 is enriched 7-fold in RLS patients compared to non-affected individuals. We generated a mouse line carrying this mutation (p.Arg272His/c.815G>A), referred to herein as Meis1R272H/R272H (Meis1 point mutation), to determine whether it would phenotypically resemble RLS...
February 5, 2024: Sleep