D-080
Cytoplasmic mislocalization of TDP-43 in clock neurons leads to arrhythmicity without impaired sleep in a novel Drosophila model of proteinopathy.
Clara Mc Cormack1, Maximiliano Katz2,3,4, Lionel Muller Igaz3,4, Lia Frenkel1,2
  1. Laboratorio de Neurociencias del Tiempo- iB3- Instituto de Biociencias, Biotecnología y Biología traslacional- Departamento de Fisiología, Biología molecular y celular- Facultad de Ciencias Exactas y Naturales- Universidad de Buenos Aires
  2. Consejo Nacional de Investigaciones Científicas y Técnicas (CONICET)
  3. Universidad de Buenos Aires, Facultad de Ciencias Médicas, Departamento de Ciencias Fisiológicas. Grupo de Neurociencias de Sistemas. Buenos Aires, Argentina
  4. CONICET - Universidad de Buenos Aires. Instituto de Fisiología y Biofísica Bernardo Houssay (IFIBIO Houssay). Buenos Aires, Argentina
Presenting Author:
Clara Mc Cormack
clarimccaba@gmail.com
Circadian rhythm abnormalities, including sleep-wake disturbances, are common features of neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Although pathological aggregation and cytoplasmic mislocalization of TDP-43 is a key event in ALS/FTD, the relationship between this protein and circadian rhythms remains unclear. We developed new Drosophila TDP-43 models to investigate its role in rhythmicity, sleep and memory. In young male adult flies, overexpression of wild type hTDP-43 (WT) in circadian neurons showed no impact on rhythmicity. The period (Tau) was not different from control animals, with a trend for decreased Tau power. In contrast, sleep analysis revealed increased sleep bouts and mean sleep length during night, but decreased total sleep duration during day. Conversely, overexpression of a hTDP-43 variant with a mutated nuclear localization signal (ΔNLS) led to a complete disruption of circadian rhythms, with no flies showing identifiable period. Surprisingly, sleep was not disturbed. When analyzing the effect of hTDP-43 overexpression in mushroom bodies neurons over inhibitory control of proboscis extension reflex, both WT and ΔNLS young flies showed memory indexes indistinguishable from control group. These results define cytoplasmic TDP-43 mislocalization as a key player in circadian disturbances, and provide new evidence for the role of this protein in human diseases of the ALS/FTD spectrum.