parkinson’s disease

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>.