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Final Project

Michelle Milne

Genetic Diseases

Mrs. Salemme

31 January 2019

Parkinson’s Disease

Parkinson’s Disease is a neurodegenerative disorder that affects dopamine producing neurons in the brain. Some symptoms of parkinson’s are tremors, balance problems, and difficulty speaking. Currently, there is no cure but some treatment options include medications to lessen the symptoms. Hereditary mutations is one factor that causes PD but only effects about 3% of the world’s population diagnosed with PD. About 15 percent of all cases of PD are hereditary. (Rachel Nall, 2018) There are specific genetic mutations and environmental factors that are known to cause parkinson’s.

To get diagnosed with Parkinson’s Disease you have to see a doctor that is trained in nervous system conditions. They will make an informed decision based on your medical history and a review of your symptoms. A neurological and physical examination are also required to diagnose PD. Doctors often use blood tests to rule out other possible diseases.

There is currently no cure for Parkinson’s Disease but medications can help control your symptoms. Some doctors may recommend lifestyle changes like a balanced diet and an exercise regimen. In some advanced cases, surgery may be advised. Patients typically undergo physical therapy and work with a speech-language pathologist to help improve speech problems. Because PD patients have low dopamine levels in their brain, many medications used to help manage PD administer dopamine.

Some specific genetic mutations that are known to cause parkinson’s disease are LRRK2(provides instructions for making a protein called dardarin), PARK7 (encodes a protein of the peptidase C56 family), PINK1 (protects cells from stress-induced mitochondrial dysfunction), PRKN (protein, may be the most common mutation known to cause PD), or SNCA gene(provides instructions for making protein called alpha-synuclein), or by alterations in genes that have not been identified. Inheriting any of these mutations does not necessarily mean a person will develop the condition. Only an estimated 15 percent of people with PD have a family history of the condition. A doctor may suggest genetic testing in some cases if your family has a long history of the disease or if you are diagnosed before the age of 30. Researchers have identified the presence of the PINK1 gene in about 2 percent of people with early-onset PD (Rickey Chen, 2017). There are two different groups of genes that produce dopamine in the brain. These two groups are called the D1 and D2-like receptor class. By the time a patient is sitting in front of a doctor and getting diagnosed with PD, they have already lost half of the dopamine producing cells in the midbrain (Frank Church, 2018). The lack of dopamine in patients brains is what causes the symptoms of PD. Dopamine helps with the bodies motor functions and with a significantly less amount of dopamine causes tremors and other symptoms.

Environmental factors are more to blame for developing Parkinson’s Disease than hereditary factors. Some environmental factors that researchers have found to increase someone’s chances of developing Parkinson’s Disease. Some factors include advancing age, being male, exposure to toxins, and a history of head trauma. Environmental factors may trigger PD during the early stage of diagnosis. Some reported factors that have been linked to a lower risk of PD is smoking, coffee, exercise, and the use of ibuprofen. Approximately 84% of all PD cases are caused by environmental factors while the 1% remaining is due to unknown causes (George DeMaagd, 2015).

After being diagnosed with parkinson’s patients can live a very full fun life. The hardest part of being diagnosed with PD is the reactions of others and how other people treat you. Patients have reported their symptoms to cause misunderstandings in their family and even job loss. Some of the first symptoms to shows can be depression and loss of smell. These symptoms can appear well before any motor symptoms show. Some non-motor symptoms that can appear as the disease progresses can include soft speech, frozen facial expressions, and a cognitive decline. Some people have even reported hallucinations and alzheimer like dementia (Ted Davis, 2017). Parkinson’s is a non-fatal disease however, death tends to occur from symptoms caused by PD. Falls are the leading cause of fatal accidents in PD patients.

Parkinson’s disease is not completely connected to hereditary factors but environmental factors as well. Patients diagnosed with PD have a high survival rate. It just takes some management and you can live your life.