Parkinson’s Disease Steven Qian Zhang Student ID: 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.

General Information

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: BrainMidbrain Substantia Nigra 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 Average incidence: 20/100,000 in North America 1 Million Affected in the United States 1 Million Affected in the United States Average of 50,000 new cases each year in the U.S Average of 50,000 new cases each year in the U.S More than $5.6 billion spent each year for research More than $5.6 billion spent each year for research

Diagnosis and Symptoms

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 Smaller Handwritings Decreased Facial Expression Decreased Facial Expression Unclear Pronunciation 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)

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 H 2 O 2 induced settings Stained HeLa cells with MTG to determine the effects of reduced levels of mortalin on mitochondria Cell culture, transfection, immunofluorescence etc.

Conclusion

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) Levodopa (Gold Standard) Dopamine Agonist Dopamine Agonist COMT Inhibitors COMT Inhibitors Diet Diet Physical Therapy Physical Therapy Surgery Surgery

Current Research Gene Therapy Gene Therapy Stem Cell Transplantion Stem Cell Transplantion Neuroprotective Agents 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 Professor Liu Wen. Shanghai Medical College "The Genetics of Parkinson's Disease." Davidson. Web. 29 Nov "Parkinson's Disease Center: Symptoms, Treatments, Causes, Tests, Diagnosis, and Prognosis." WebMD - Better Information. Better Health. Web. 29 Nov Staff, Mayo Clinic. "Parkinson's Disease - MayoClinic.com." Mayo Clinic. Web. 29 Nov