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Physiological significance of WDR45, a responsible gene for β-propeller protein associated neurodegeneration (BPAN), in brain development
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Physiological significance of WDR45, a responsible gene for β-propeller protein associated neurodegeneration (BPAN), in brain development
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Journal Article
Physiological significance of WDR45, a responsible gene for β-propeller protein associated neurodegeneration (BPAN), in brain development
2021
Overview
WDR45 plays an essential role in the early stage of autophagy. De novo heterozygous mutations in
WDR45
have been known to cause β-propeller protein-associated neurodegeneration (BPAN), a subtype of neurodegeneration with brain iron accumulation (NBIA). Although BPAN patients display global developmental delay with intellectual disability, the neurodevelopmental pathophysiology of BPAN remains largely unknown. In the present study, we analyzed the physiological role of Wdr45 and pathophysiological significance of the gene abnormality during mouse brain development. Morphological and biochemical analyses revealed that Wdr45 is expressed in a developmental stage-dependent manner in mouse brain. Wdr45 was also found to be located in excitatory synapses by biochemical fractionation. Since
WDR45
mutations are thought to cause protein degradation, we conducted acute knockdown experiments by in utero electroporation in mice to recapitulate the pathophysiological conditions of BPAN. Knockdown of
Wdr45
caused abnormal dendritic development and synaptogenesis during corticogenesis, both of which were significantly rescued by co-expression with RNAi-resistant version of Wdr45. In addition, terminal arbors of callosal axons were less developed in Wdr45-deficient cortical neurons of adult mouse when compared to control cells. These results strongly suggest a pathophysiological significance of
WDR45
gene abnormalities in neurodevelopmental aspects of BPAN.
Publisher
Nature Publishing Group UK,Nature Publishing Group,Nature Portfolio
Subject
/ 631/378
/ Animals
/ Axons
/ Carrier Proteins - metabolism
/ Electrical Synapses - metabolism
/ Electrical Synapses - pathology
/ Gene Expression Regulation, Developmental
/ Humanities and Social Sciences
/ Iron Metabolism Disorders - embryology
/ Iron Metabolism Disorders - genetics
/ Iron Metabolism Disorders - metabolism
/ Iron Metabolism Disorders - pathology
/ Mice
/ Mutation
/ Neuroaxonal Dystrophies - embryology
/ Neuroaxonal Dystrophies - genetics
/ Neuroaxonal Dystrophies - metabolism
/ Neuroaxonal Dystrophies - pathology
/ Neurodevelopmental disorders
/ Proteins
/ Science
/ Synapses
