Lipid dysfunction in Huntington Disease -"Molecular Mechanisms and Therapy"

  • Author / Creator
    Di Pardo, Alba
  • Huntington disease (HD) is a neurodegenerative disorder characterized by motor and cognitive symptoms. In HD patients, the protein huntingtin contains an abnormal expansion of a polyglutamine tract, which leads to the selective dysfunction and death of striatal and cortical neurons. Among other cellular dysfunctions, cholesterol and ganglioside GM1 synthesis are affected in HD neurons. In this thesis I demonstrated that impaired cholesterol metabolism in HD cells results from aberrant interaction of mutant huntingtin with the transcription factor Sterol Regulatory Element-Binding Protein 2 (SREBP2). I also showed that administration of GM1 restores normal motor behavior in HD mice.My studies have led to a better understanding of the causes of cholesterol metabolism dysregulation in HD, and have identified GM1 as a potential therapy for the disease

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  • Graduation date
  • Type of Item
  • Degree
    Master of Science
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    This thesis is made available by the University of Alberta Libraries with permission of the copyright owner solely for non-commercial purposes. This thesis, or any portion thereof, may not otherwise be copied or reproduced without the written consent of the copyright owner, except to the extent permitted by Canadian copyright law.