2022 Fiscal Year Annual Research Report

Elucidate the neural mechanisms underlying sleep disturbances in neurodevelopmental disorders-focusing on CDKL5 deficiency disorder-

Research Project

Project/Area Number	20K06738
Research Institution	University of Tsukuba
Principal Investigator	曹麗琴筑波大学, 国際統合睡眠医科学研究機構, 助教 (60399475)
Project Period (FY)	2020-04-01 – 2023-03-31
Keywords	CDKL5 / 睡眠 / マウス / 神経発達障害 / 脳・神経 / 遺伝学
Outline of Annual Research Achievements	CDKL5 deficiency disorder (CDD) is a devastating neurodevelopmental disorder caused by pathogenic mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene. More than 86% of patients have severe sleep problems, which greatly affect the quality of life for patients and their families. However, little is known about the neuronal mechanism underlying the sleep disturbances in CDD. In this year we conducted sleep analysis in excitatory/inhibitory neuron-specific Cdkl5 conditional knockout (cKO) mice, respectively. Additionally, we for the first time analyzed sleep disturbances in a novel mouse model, which carries a mutation mimicking a human CDD lost-of-function missense mutation. The results complement existing Cdkl5 KO mouse models of sleep disturbances in future mechanistic and translational studies.

(3 results)