The role of BTBD9 in the cerebral cortex and the pathogenesis of restless legs syndrome
Authors: Keer Zhang, Shangru Lyu, Yuqing Li
Faculty Mentor: Yuqing Li
College: College of Medicine
Restless legs syndrome (RLS) is a nocturnal neurological disorder affecting up to 10% of the population and is characterized by an urge to move and uncomfortable sensations in the legs. Previous research identified BTBD9 as a genetic risk factor of RLS and suggests a thinner brain tissue in the primary somatosensory cortex (S1) might associate with RLS symptoms. However, the role of cerebral cortex in the pathogenesis of RLS remains unclear. To explore this, we compared the morphological changes in Btbd9 knocked out (KO) and cerebral cortex-specific Btbd9 KO mice (Btbd9 cKO). We prepared the brain slices using histological method and compared the thickness of corpus callosum, primary somatosensory (S1) and motor cortex (M1) between the Btbd9 KO or cKO mice and their wild type or control littermates. The cKO mice allowed us to have an accurate and targeted effect with loss of Btbd9 in only the cerebral cortex. Our result showed both Btbd9 KO and Btbd9 cKO mice had 1). thinner S1HL that may correlate with sensory deficits and 2). thinner M1 that may correlate with motor deficits. We concluded that cerebral cortical BTBD9 deficiency alone is sufficient to induce both behavioral and morphological phenotypes in RLS patients.
Click the video below to view the student's poster pitch.