Chorein Sensitive Arrangement of Cytoskeletal Architecture

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology
Sabina HonischChristos Stournaras

Abstract

Chorein is a protein expressed in various cell types. Loss of function mutations of the chorein encoding gene VPS13A lead to chorea-acanthocytosis, an autosomal recessive genetic disease characterized by movement disorder and behavioral abnormalities. Recent observations revealed that chorein is a powerful regulator of actin cytoskeleton in erythrocytes, platelets, K562 and endothelial HUVEC cells. In the present study we have used Western blotting to study actin polymerization dynamics, laser scanning microscopy to evaluate in detail the role of chorein in microfilaments, microtubules and intermediate filaments cytoskeleton architecture and RT-PCR to assess gene transcription of the cytoskeletal proteins. We report here powerful depolymerization of actin microfilaments both, in erythrocytes and fibroblasts isolated from chorea-acanthocytosis patients. Along those lines, morphological analysis of fibroblasts from chorea-acanthocytosis patients showed disarranged microtubular network, when compared to fibroblasts from healthy donors. Similarly, the intermediate filament networks of desmin and cytokeratins showed significantly disordered organization with clearly diminished staining in patient's fibroblasts. In line with this, RT...Continue Reading

Citations

Mar 17, 2017·Blood Cells, Molecules & Diseases·Walter OberwagnerUlrich Salzer
Feb 3, 2019·Disease Models & Mechanisms·Sandra Muñoz-BracerasRicardo Escalante
Feb 15, 2019·Reproduction : the Official Journal of the Society for the Study of Fertility·Marcelo H RattoGregg P Adams
Aug 11, 2018·The Journal of Cell Biology·Nikit KumarPietro De Camilli
Jun 3, 2021·Journal of Personalized Medicine·Kevin PeikertAndreas Hermann
Jan 1, 2020·Journal of Neuroradiology. Journal De Neuroradiologie·Fumio SuzukiOsamu Abe

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