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

• Subjects / Keywords

  • Huntington Disease
  • Lipids

• Graduation date

  Spring 2013

• Type of Item

  Thesis

• Degree

  Master of Science

• DOI

  https://doi.org/10.7939/R3DS3N

• License

  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.