Parkinson's Disease


Introduction:

I was interested in studying Parkinson’s because my late grandfather had the disease. He was always shaking, and as a child, I had always wondered why. This seemed like a really good opportunity to do some research and to communicate that to others.
In recent years, there has definitely been more research and interest in the disease—in part because of medical advances and in part because of the diagnosis of the actor Michael J. Fox. The two videos below depict the effects of the disease as well as Fox’s fight for a cure and a better life.

This is a story on Michael done by BBC News


This is a PSA on Parkinson's Disease

I really respect Michael J. Fox for remaining and active part of the world, helping and inspiring people, even with his awful condition. I really hope research of the disease will continue and eventually lead to a cure.
Visit his website at: http://www.michaeljfox.org/



Background:


Parkinson’s has been known for centuries; actually, researchers have found evidence of the disease dating back to 5000 BCE. The disease was first described as “the shaking palsy” in 175 AD. It was later renamed “Parkinson’s” after James Parkinson, the London physician who wrote a detailed medical essay about the disease in 1817. The key connection between chemicals in the brain and the disease was discovered in 1960. Shortly after, the drug Levodopa was released to alleviate the common symptoms of Parkinson’s, and medical treatment has progressed ever since.[1]



Basic Overview:

At any given time, there are around 500,000 people affected by Parkinson’s, which is a motor system disorder that results from a loss of dopamine-producing brain cells. Dopamine is a chemical that transmits signals within the brain. When neurons (nerve cells) die or stop working, dopamine production is inadequate; as a result, nerve cells can “fire out of control.” People affected lose control of their movement, primarily in hands, arms, legs, jaw, and face; they can have tremors in those areas. Other symptoms include the stiffness of the limbs, bradykinesia (slowness of movement), impaired balance, and coordination problem. [2]

Parkinsons_Disease_Frequently_Asked_Questions.jpg
Neurons are found within the Substania nigra, which is unfortunately out of reach for researchers. This makes direct testing of the area where Parkinson's originates impossible. [3]

Parkinson’s is a chronic disease and it gets progressively worse.There is no cure for Parkinson’s yet. There are some different medications to ease some of the symptoms, but nothing to slow or stop the progression of the disease. There is no way to prevent or predict the disease.

However, this could change. Researchers have singled out a specific gene LRRK2 (for leucine-rich repeat kinase 2), which encodes for the production of dardarin. Dardarin is a protein that has had several different mutations within it linked to Parkinson’s. These mutations account for “more than 20 percent of all cases of Parkinson's disease in Arabs, North Africans and Jews.” One mutation is in amino acid No. 2,019: the glycine is changed into a serine. This small change is a point missense mutation. The study which focused in Jewish people found that: “More than 18 percent of the patients harbored the glycine-to-serine error, while only about 1 percent of healthy Jews had it. About a third of those with the mutation can expect to get Parkinson's, meaning the error increases one's risk 15- to 20-fold. ” Dardarin is thought to attach phosphates to other proteins. Overactive dardarin and the resulting excess phosphates could affect the other intracellular interactions. This could have an effect on the neurons within the brain, and make a person more vulnerable to Parkinson’s. [4]

There has been other research that confirms vitamin B6 status and metabolism significantly influence both disease risk and therapy response. These are environmental factors that are not affected by the genetics of a particular person. Because of this study, scientists discovered a gene variant which increases the risk for Parkinson's disease and which may lead to a modified quantity or activity of the enzyme pyridoxal kinase (PDXK) in the brain. PDXK “converts Vitamin B6 from food sources into its physiologically active form, which is the prerequisite for the production of the neurotransmitter dopamine.” [5]

The video below from the California Institute of Regenerative Medicine discusses the treatment of Parkinson's and research they are looking to complete in the future.




Ethical quandaries:

With the research presented in the previous section, some big questions have arisen. Should doctors offer LRRK2 gene tests to people with the relevant ancestry? Expert opinions differ—some say yes, some say yes with extensive counseling in advance, and some say no. “’Before we put tests into clinical practice, we have to have something to tell the patient who is asking, 'Now what do I do?'’ said Ephrat Levy-Lahad, director of medical genetics at Shaare Zedek Medical Center in Jerusalem.” [6]



Future:

Some studies have already measured an excess of phosphates in certain patients, which could be a result of overactive dardarin proteins. Obviously this ties back to the disease. This line of research could be extremely beneficial… Drugs may be able to calm down the production of those phosphates and possibly slow down the disease itself. Also, research with environmental and other external factors can progress by incorporating knowledge of the LRRK2 gene. This could help with determining risk factors and possibly preventing the disease. Lastly, the LRRK2 research has shown a common genetic flaw in the genetic coding of both Israelis and Arabs. Some people think that this shared trait, along with any more that appear, could provide a common foundation for those ethnic groups and could alleviate some of the tension.[7]



  1. ^ http://www.parkinsons.org/parkinsons-history.html
  2. ^ www.parkinsons.org
  3. ^ http://www.hipusa.com/webmd/images/health_and_medical_reference/brain_and_nervous_system/Parkinsons_Disease_Frequently_Asked_Questions.jpg
  4. ^ http://www.washingtonpost.com/wp-dyn/content/article/2006/01/25/AR2006012501998.html
  5. ^ http://www.research-in-germany.de/43984/2010-01-11-genetic-risk-factor-identified-for-parkinson-s-disease-gene-variant-influences-vitamin-b6-metabolism,sourcePageId=12290.html
  6. ^ http://www.washingtonpost.com/wp-dyn/content/article/2006/01/25/AR2006012501998.html
  7. ^ http://www.washingtonpost.com/wp-dyn/content/article/2006/01/25/AR2006012501998.html