PUBLICATION

Dysregulation of Microglial Function Contributes to Neuronal Impairment in Mcoln1a-Deficient Zebrafish

Authors
Jin, W., Dai, Y., Li, F., Zhu, L., Huang, Z., Liu, W., Li, J., Zhang, M., Du, J., Zhang, W., Wen, Z.
ID
ZDB-PUB-190322-16
Date
2019
Source
iScience   13: 391-401 (Journal)
Registered Authors
Du, Jiu Lin, Huang, Zhibin, Liu, Wei, Wen, Zilong, Zhang, Wenqing
Keywords
Cellular Neuroscience, Clinical Neuroscience, Model Organism, Neuroscience
MeSH Terms
none
PubMed
30897512 Full text @ iScience
Abstract
Type IV mucolipidosis (ML-IV) is a neurodegenerative lysosome storage disorder caused by mutations in the MCOLN1 gene. However, the cellular and molecular bases underlying the neuronal phenotypes of ML-IV disease remain elusive. Using a forward genetic screening, we identified a zebrafish mutant, biluo, that harbors a hypomorphic mutation in mcoln1a, one of the two zebrafish homologs of mammalian MCOLN1. The mcoln1a-deficient mutants display phenotypes partially recapitulating the key features of ML-IV disorder, including the accumulation of enlarged late endosomes in microglia and aberrant neuronal activities in both spontaneous and visual-evoking conditions in optic tectal neurons. We further show that the accumulation of enlarged late endosomes in microglia is caused by the impairment of late endosome and lysosome fusion and the aberrant neuronal activities can be partially rescued by the reconstitution of Mcoln1a function in microglia. Our findings suggest that dysregulation of microglial function may contribute to the development and progression of ML-IV disease.
Genes / Markers
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Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping