The role of BTBD9 in the cerebral cortex and the pathogenesis of restless legs syndrome

Keer Zhang

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.

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9 Responses
  1. Enoch Kuo

    Hi Keer,

    This is interesting research!
    I just wanted to know – How did you start getting interested in studying RLS?

    1. Hello Enoch, thank you for your comment. I became interested in neuro/nerve after a hand injury. Shortly after I met Dr. Li at one of the CURBS events and was introduced to RLS. I started to look into RLS and I realized I have seen mild cases of its effects on people around me (including those that cannot stop tapping their foot, etc.). From there, I choose to join this lab and here we are.

  2. Fantastic work, Keer! This was super interesting to read. For the future, do you plan on researching on other neurological disorders? If so, which ones?

    1. Thank you, Erin! For the future, I would like to incorporate regenerative medicine with neuro/nerve. However, that might be a long way off the road.
      P.S. I am really interested in regenerative abilities and hope to advance its medical application.

  3. Eli Nir

    Great poster! Have you started developing a methodology for your future research plans on the topic?

    1. Thank you, Eli! I am working on a different but related project this semester. Our lab is currently in the process of writing a manuscript and grant proposals. After this, we will focus on designing an experiment mentioned in the future direction.