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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" . - PowerPoint PPT Presentation
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Parkinson’s Disease
Steven Qian ZhangStudent ID: 10301016055
Medical Genetics- Shanghai Medical CollegeInstructor: 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.
General Information
Five Big W’sWHAT: Disease in the Central Nervous System
WHO: People Male/Female (equally affected)Old Male/FemaleWhite Old Male/Female (higher %)
WHERE: BrainMidbrain 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
Diagnosis and Symptoms
Movement Disorders
Involuntary ShakingMuscle RigiditySlowness in Walking and SwallowingVaries 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
DiseaseGenetics/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)
Professor Liu’ Research
Background
Accumulation of mitochondrial oxidative stress and abnormal proteins= impaired dopaminergic neurons
Parkin gene’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 1. Adverse effects of mitochondrial
dysfunction result of dismantled mortalin and Parkin gene mutation
2. 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.
Conclusion1. 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
2. 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
Pharmacotherapy
Treatments
• Levodopa (Gold
Standard)• Dopamine
Agonist• COMT Inhibitors• Diet
• Physical Therapy
• Surgery
Current Researc
h• Gene Therapy
• Stem Cell Transplantio
n• Neuroprotect
ive Agents
The EndThanks 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>.
