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Series GSE184520 Query DataSets for GSE184520
Status Public on Nov 17, 2021
Title Iron accumulation and changes of cellular organelles in WDR45 mutant fibroblasts
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary Iron overload in the brain, defined as excess stores of iron, is known to be related to neurological disorder. Among neurodegeneration with brain iron accumulation, we reported a specific point mutation, 977-1G>A in WDR45, showing iron accumulation in the brain, and autophagy defects in the fibroblasts. In this study, we investigated whether fibroblasts with mutated WDR45 accumulated iron, and other effects on cellular organelles. We first identified the main location of iron accumulation in the mutant fibroblasts and then investigated the effects of this accumulation on other organelles, including lipid droplets, mitochondria, and lysosomes. Ultrastructure analysis using transmission electron microscopy (TEM) and confocal microscopy showed structural changes in the organelles. Increased numbers of lipid droplets, fragmented mitochondria, and increased lysosomal vesicles with functional disorder due to WDR45 deficiency were observed. The majority of iron accumulation occurred in the lysosomal vesicles, according to correlative light and electron microscopy (CLEM). These changes were related to defects in autophagy and defective protein and organelle turnover. Gene expression profiling analysis also showed significant changes in lipid metabolism, mitochondrial function, and autophagy-related genes. Those data suggested that functional and structural changes caused impaired lipid metabolism, mitochondrial disorder, and unbalanced autophagy fluxes, due to iron overload.
Overall design The transcriptomic profiles of patient derived WDR45 mutant fibroblasts and normal fibroblasts.
Contributor(s) Mun JY, Lee HE, Jung M, Chae S
Citation(s) 34769084
Submission date Sep 21, 2021
Last update date Nov 19, 2021
Contact name Sehyun Chae
Organization name Korea Brain Research Institute
Department Neurovascular Unit Research Group
Street address 61, Cheomdan-ro, Dong-gu
City Daegu
ZIP/Postal code 41062
Country South Korea
Platforms (1)
GPL20301 Illumina HiSeq 4000 (Homo sapiens)
Samples (6)
GSM5591852 NHDF-1
GSM5591853 NHDF-2
GSM5591854 NHDF-3
BioProject PRJNA764903
SRA SRP338058

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Supplementary file Size Download File type/resource
GSE184520_RAW.tar 1.4 Mb (http)(custom) TAR (of TXT)
GSE184520_Raw_counts_matrix.txt.gz 365.3 Kb (ftp)(http) TXT
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Raw data are available in SRA
Processed data provided as supplementary file

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