153A_Lec7

153A_Lec7 - Huntington's Disease; Protein: Secondary and...

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Huntington’s Disease; Protein: Secondary and Tertiary Structure Jan. 16, 2008
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Overview • Guest Lecturer: Dyna Shirasaki • Dr. Villa’s Lecture – More protein secondary structure – Protein tertiary structure • Reminder: Friday, Jan. 18th is the last day to drop the course
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Protein Structure and Its Relevance to Huntington’s Disease and Other Neurodegenerative Disorders Dyna Shirasaki Joe A. Loo & X. William Yang Labs January 16, 2008
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History of Huntington’s Disease (HD) • 1983: HD gene identified (Gusella et al, Nature, 1983 ) • 1993: Cause of disease traced to an expanded polyglutamine stretch in the huntingtin protein ( Huntington’s Disease Collaborative Research Group, Cell, 1993 ) • Prevalence: 30,000 Americans have HD (~150,000 at risk) – Parkinson’s disease more than 1.5 million American Parkinson’s Disease Association) – Alzheimer’s disease more than 4.5 million (Alzheimer’s Association) • No effective treatments currently exist
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Symptoms of HD • Emotional/Behavioral – Irritability – Depression – Anxiety – Aggressive outbursts – Mood swings – Social withdrawal – Suicide rate is 7-8 times higher than the national average • Cognitive Defects – Problems with short-term memory, organizing, coping, concentrating • Movement Disorders – Fidgety behavior – Uncoordination – Involuntary movements – Difficulties with speech, swallowing, balance, walking
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HD: A Hereditary Disease • 50% chance of passing disease to offspring Does not skip a generation Progressive disorder – Noticeable symptoms often arise between age 30-45 – Juvenile HD exists
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Neuropathology • Selective regional neuronal degeneration Bergman, Ron, et al. Atlas of Human Anatomy in Cross Section.
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153A_Lec7 - Huntington's Disease; Protein: Secondary and...

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