Characterization of a Drosophila model for Chorea‐Acanthocytosis

Jan Vonk

    Research output: ThesisThesis fully internal (DIV)

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    Chorea-Acanthocytosis is a rare neurodegenerative disorder which leads to degeneration in the central nervous system and movement disorders. It is caused by dysfunction of the VPS13A gene. How VPS13A dysfunction leads to Chorea-Acanthocytosis is not known.
    The goal of this project was to investigate the physiological role of VPS13A by using the common fruit fly, Drosophila melanogaster, as a model organism. The fruit fly contains a gene very similar to human VPS13A which is called Vps13. Our results show that dysfunction of Vps13 in the fruit fly leads to a decreased life span and neurodegeneration. Additionally, the Vps13 gene is required for maintaining protein homeostasis in the fruit fly central nervous system. Many neurodegenerative disorders are characterized by defects in protein homeostasis, however for Chorea-Acanthocytosis this is not yet known. When we introduced the human VPS13A in our Vps13 dysfunctional fruit flies it rescued some of the phenotypes, among which the shortened life span and the protein homeostasis dysfunction. This result shows that the human gene can partly take over the function of the fruit fly Vps13 and that human VPS13A and Drosophila Vps13 have overlapping functions.
    The Drosophila model we established can be used to study the function of Vps13 in the physiology of an organism. It may also give insight in the causes of Chorea-Acanthocytosis and provide a way to develop possible therapeutic strategies.
    Translated title of the contributionKarakterisatie van een Drosophila model voor Chorea-Acanthocytose
    Original languageEnglish
    QualificationDoctor of Philosophy
    Awarding Institution
    • University of Groningen
    • Sibon, Ody, Supervisor
    Award date3-Jul-2017
    Place of Publication[Groningen]
    Print ISBNs978-90-367-9868-6
    Electronic ISBNs978-90-367-9867-9
    Publication statusPublished - 2017

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