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This article provides an overview of Parkinson's disease, including its causes, symptoms, and various treatment options available. It also discusses ongoing research on gene therapy, stem cell transplantation, and neuroprotective agents. Written in English.
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Parkinson’s Disease Steven Qian Zhang Student ID: 10301016055 Medical Genetics- Shanghai Medical College Instructor: Professor Liu Wen
Famous Quotations What folks think about PD
"When the doctor first told me I had Parkinson's, I wanted to kill him" -Michael J. Fox
“这个帕金森, 我恨不得将它碎尸万段!!" -Grandpapa of Steven Z.
Five Big W’s • WHAT: Disease in the Central Nervous System • WHO: • People • Male/Female (equally affected) • Old Male/Female • White Old Male/Female (higher %) • WHERE: • Brain • Midbrain • Substantia Nigra • WHEN: Average age of onset= 62.5 years young • WHY: Dunno…Related to unknown death of dopamine- generating cells in the CNS
Statistics Average incidence: 20/100,000 in North America 1 Million Affected in the United States Average of 50,000 new cases each year in the U.S More than $5.6 billion spent each year for research
Movement Disorders • Involuntary Shaking • Muscle Rigidity • Slowness in Walking and Swallowing • Varies with Different Stages of Parkinson's Disease
Neurological Disorders • Depression • Sensory Problems • Sleeping Disorders • Emotional Changes
Characteristic Disorders Smaller Handwritings Decreased Facial Expression Unclear Pronunciation
Stages of Parkinson's • One: Normal; lives independently • Two: Takes twice as long to do chores; can live independently • Three: Some dependency; able to do most chores. • Four: Very dependent; able to assist in chores • Five: 100% dependent; litte to none ability to do chore • Six: Unable to swallow; bladder and bowel dysfunction; in bed or wheelchair
PD as a Polygenetic Disease Genetics/Environmental Components
Genetic Component • Defective Alpha-Synuclein Gene may be related to the cause of Parkinson’s Disease in some cases • Mutation in Parkin Gene is one of the reason for high incidence of early onset in China (One of the focuses of Professor Liu’s research)
Background • Accumulation of mitochondrial oxidative stress and abnormal proteins= impaired dopaminergic neurons • Parkingene’s function: activates self- repair mechanism in the mitochondria • Mortalin: molecular chaperon located primarily in the mitochondria for mitochondrial homeostasis • PD= Parkin gene mutation + reduced levels of mortalin in brain regions of PD patients.
Focuses • Adverse effects of mitochondrial dysfunction result of dismantled mortalin and Parkin gene mutation • Parkin gene overexpression prevents mitochondrial dysfunctions?
Materials/Methods • Monitored MMP, ROS, mtDNA copy numbers to determine the role of mortalin and Parkin gene under H2O2 induced settings • Stained HeLa cells with MTG to determine the effects of reduced levels of mortalin on mitochondria • Cell culture, transfection, immunofluorescence etc.
Conclusion • Adverse Effects • Disintegration of mitochondrial connectivity • Low branching of mitochondria • Impaired interaction between Parkin gene and mortalin interferes with the protective role of Parkin gene • Parkin gene overexpression prevent mitochondrial dysfunctions? • YES!!!!!
Environmental Component • Consumption of illegal drug that contains MPTP (1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine) • Severe cases of influenza during the early twentieth century
Treatments Levodopa (Gold Standard) Dopamine Agonist COMT Inhibitors Diet Physical Therapy Surgery
Current Research Gene Therapy Stem Cell Transplantion Neuroprotective Agents
The End Thanks very much for your attention and good luck to my Grandpapa!!
Works Cited "香港柏金遜症基金會 - Hong Kong Parkinson's Disease Foundation." 香港柏金遜症基金 - Hong Kong Parkinson's Disease Foundation. Web. 29 Nov. 2011. <http://www.hkpdf.org.hk/eng_profile.html>. Professor Liu Wen . Shanghai Medical College "The Genetics of Parkinson's Disease." Biology @ Davidson. Web. 29 Nov. 2011. <http://www.bio.davidson.edu/courses/genomics/2001/madden/assignment1.html>. "Parkinson's Disease Center: Symptoms, Treatments, Causes, Tests, Diagnosis, and Prognosis." WebMD - Better Information. Better Health. Web. 29 Nov. 2011. <http://www.webmd.com/parkinsons-disease/default.htm>. Staff, Mayo Clinic. "Parkinson's Disease - MayoClinic.com." Mayo Clinic. Web. 29 Nov. 2011. <http://www.mayoclinic.com/health/parkinsons-disease/DS00295>.