Parkinson's disease, also abbreviated to (PD), is a neurodegenerative disorder that involves genetics and mutations found in a gene, which affects an individual's motor skills, balance, and nervous system, eventually leading to impairments of everyday life. PD is a disease that affects people from all over the world if they have at a concerning rate of increase in cases. There is a lot of research that is being done to try to find out what increases the likelihood of developing PD in the future, allowing people to get the care that they need from rehabilitation to medicine.
Within the neuroscience seminar class, we had a guest speaker, Mary Makarious, who discussed the Global Parkinson’s Genetics Program that she works with. The point of this program is to collect data information from all over the world to understand PD on a whole new level. This is done by teaching institutions, medical locations, and many more how to look at genetic information from patients and volunteers and break down the data. In doing this, the data that is being collected is revealing specific key factors that lead to this complex disease. With the work that is being done, they have found that there are different key genes in different places that are specific to different groups of people, widely ranging across different demographics. This connects to the question of why there are so many different key gene variations that lead to the one disease, PD.
In the article that I found, “α-Synuclein Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson's Disease”, which was published in 2021, goes on a deep dive into why there are so many different genes that are linked to PD. To learn this, they looked at a common denominator, which is α-synuclein, a protein that collects to form Lewy bodies within the brain and nerve cells, which happens in PD, to see how this interacts with the varying genes that lead to parkinsons. To create an experiment to show this, they colled skin biopsies samples from 65 participants; 30 of the participants with PD gene mutations, 19 participants that has no inherit gene or family that has had PD before them but yet still have PD, and lastly 16 participants who did not have PD or any signs of developing the disease. In these samples, it has the sympathetic nerves, which were then put through immunofluorescence microscopy to tag the α-synuclei and nerve fibers marked with tyrosine hydroxylase. Once calculated,d they were able to see how much the other overlapped using the colocalization index. The results from this experiment showed that the participants who had the mutation gene SNCA, LRRK2, and GBA, and those who did not have a previous mutation, showed high amounts of α-synuclein that collected in the nerve fibers. What was interesting was that the participants with PD with the mutation of PRKN had very small to practically no amount of α-synuclein. This then leads to the conclusion that the reason for this even happening is because PD is not just one specific disease, but instead it is an umbrella for all the different issues that happen within the body within the nerves and brain, leading to the symptoms that are known as PD.
The research that took place for the articles really shows the importance of how research can further our understanding of PD. With the knowledge that is gained, it will allow people all over the world to get a proper diagnosis of the disease early on. Another important key to note is the fact that with continuing research on PD, we will be able to better create solutions, such as care and treatment for all of the different symptoms of PD.
References:
Tackling a Disease on a Global Scale, the Global Parkinson’s Genetics Program, GP2: A New Generation of Opportunities: The American Journal of Human Genetics, www.cell.com/ajhg/fulltext/S0002-9297(25)00284-8 . Accessed 11 Oct. 2025.
α-Synuclein Deposition in Sympathetic Nerve Fibers in Genetic Forms of Parkinson’s Disease. Movement Disorders, vol. 36, no. 10, 2021, pp. 2346–2357, https://doi.org/10.1002/mds.28667. Accessed 11 Oct. 2025.https://movementdisorders.onlinelibrary.wiley.com/doi/epdf/10.1002/mds.28667
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