Genetic Mutations & Gene Therapy

What is Parkinson's Disease?

Parkinson's disease is a progressive disorder of the nervous system that affects movement. It develops slowly, making it hard to diagnose in its early stages. It may begin with a slight tremor in one hand; however, although tremors are the most common symptom of Parkinson's Disease, other symptoms can include a slowing or freezing of movement (Citation 214).

Dopamine is a substance that acts as a messenger between two parts of the brain, in order to control and produce smooth movements that an individual can control. Lack of dopamine is most often the cause of Parkinson's Disease in relation to movement control (Citation 215).

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Symptoms:

Like with any other disease, symtpoms of Parkinson's disease can differ within each person. Symptoms of Parkinson's disease most often begin on one side of the body, and gradually affect the other side. However, the originally affected side will remain the worse of the two. Symptoms can include:

Tremor: Although not experienced in everyone, one of the main symptoms of Parkinson's disease is a tremor usually in the hand. Pill-rolling, a back and forth rubbing of the thumb and forefinger, can also be a symptom in relation to the tremors.
Slowed motion (bradykinesia): Gradually, Parkinson's disease will affect a person's ability to move willingly. Movement will be hard and daily tasks will be more difficult.
Rigid muscles: Stiffness may often occur as Parkinson's disease develops. Stiffness in your muscles will make it harder for you to move without feeling pain. This is normally first seen when you stop swinging your arms while walking.
Impaired posture and balance: Your posture won't be as straight and will develop a "stoop-like" form. This in affect will result in difficulty in keeping balance as the disease progresses.
Loss of automatic movements: Daily actions such as smiling and blinking tend to be diminished and an unchanging facial expression along with unblinking eyes will develop.
Speech changes: Speech problems tend to affect those with Parkinson's disease. Often speech will became more monotone, slow, or rapid depending on the person.
Dementia: As Parkinson's disease develops, an individual may often experience loss of memory or mental clarity.
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What genes are linked to Parkinson's disease?

Parkinson's disease most often occurs spontaneously with no known cause. Although a small percentage have family members with the disease, scientists have linked a number of genes in relation to the disorder. 5 genes have been linked to Parkinson's disease:

Disclaimer Note: The following list of genes was obtained from a website. See Citation 219.

SNCA (synuclein, alpha non A4 component of amyloid precursor): SNCA makes the protein alpha-synuclein. In brain cells of individuals with Parkinson's disease, this protein aggregates in clumps called Lewy bodies. Mutations in the SNCA gene are found in early-onset Parkinson's disease.
PARK2 (Parkinson's disease autosomal recessive, juvenile 2): The PARK2 gene makes the protein parkin. Mutations of the PARK2 gene are mostly found in individuals with juvenile Parkinson's disease. Parkin normally helps cells break down and recycle proteins.
PARK7 (Parkinson's disease autosomal recessive, early onset 7): PARK7 mutations are found in early-onset Parkinson's disease. The PARK7 gene makes the DJ-1 protein, which may protect cells from oxidative stress.
PINK1 (PTEN-induced putative kinase 1): Mutations of this gene are found in early-onset Parkinson's disease. The exact function of the protein made by PINK1 is not known, but it may protect structures within the cell called mitochondria from stress.
LRRK2 (leucine-rich repeat kinase 2): LRRK2 makes the protein dardarin. Mutations in the LRRK2 gene have been linked to late-onset Parkinson's disease.

There are also a number of other chromosomes that have been thought to be linked to Parkinson's disease. Scientists hope that studying these genes will provide more adequate treatments of gene therapy in the future.

Who is at risk for Parkinson's disease?

Most people who develop Parkinson's disease are people age 60 and older. While a family history of the disease may be a contributing factor as to who gets the disease, illnesses as well as head trauma could be a contributing factor as well. Men are 1.5 to times more likely to develop the disease in comparison to woman (Citation 219).

Treatments and Drugs :

Like many other diseases, unfortunately there is no cure for Parkinson's disease, only treatment. Treatments include medication, surgery, therapy and more. Your doctor could recommend several different life changing treatments depending on the severity of the disease.

Medications
While medications can't cure Parkinson's disease, they could reduce the effects of some of the symptoms. However, these effects, although drastic when the medicine is first being taken, are known to lose their effects over time. Medication can include adding dopamine to the brain's supply.

For a full list of examples of medication your doctor may prescribe, click here.

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