It is important that we understand how medical conditions impact everyone, as knowledge helps with future research, drug development, and more. Unfortunately, medical research is not always inclusive. Because of this, we do not fully know how some diseases affect different races and ethnicities. A study recently published in Annals of Neurology aimed to change this by investigating the genetics of Parkinson’s disease (PD) in Latinos.
About the Study
Titled “Characterizing the Genetic Architecture of Parkinson’s Disease in Latinos,” this study evaluated the genetics of 1,497 Latino people in an effort to find factors that increase the risk of Parkinson’s. 807 of these participants were diagnosed with Parkinson’s, while the remaining 690 did not have the neurodegenerative disease. They came from nine sites across Colombia, Brazil, Chile, Uruguay, and Peru, all of which are part of the Latin American Research Consortium on the Genetics of Parkinson’s Disease (LARGE-PD).
In order to discover any genetic factors that raise the risk of Parkinson’s, the researchers performed a genome-wide association study (GWAS). This led them to mutations in the SNCA gene. They discovered a significant association between the altered gene and Parkinson’s, as have previous studies of European patients.
This gene plays a role in the production of the protein alpha-synuclein. In people with Parkinson’s disease, this protein accumulates to form toxic clumps within the neurons, leading to neurodegeneration and characteristic symptoms.
After this discovery, the team pushed on to investigate any other alterations that could be associated with PD, specifically genetic variants that have already been connected to the disease in European patients. This proved to be very successful, as 63 of the 76 genes tested were shown to correlate to PD. Based on this information, the researchers stated that there was “a substantial overlap in the genetic architecture of PD between Latinos and Europeans.”
Parkinson’s Disease and Ancestry
Researchers also looked at ancestry, as they tried to find links between Parkinson’s and Native American, African American, and European lineage. This is because the majority of Latin Americans’ genetics are comprised of this ancestry.
After admixture analyses, the results were:
- People with African American ancestry were less likely to develop PD due to an altered RPS6KA2 gene
- The STXBP6 and NRROS genes were found in the Native American population and correlated to PD
Looking Forward
While this study is a step in the right direction for inclusivity and Parkinson’s disease research, there is still more to be done. Further research should be conducted to understand how PD functions in people with different backgrounds and lineages.
PD is a global disease that is seeing growing numbers across the world; understanding how it impacts different patients is essential.
About PD
Parkinson’s disease is a progressive disorder that affects the central nervous system (CNS). It is characterized by its effect on movement through five different stages. As the disease progresses, severity increases. Stage one is characterized by subtle tremors on one side of the body. In stage two symptoms are more noticeable, with tremors and rigidity on both sides of the body. Stage three brings loss of balance and slowed movement. Stage four makes it impossible for one to live independently. Stage five is the most severe, as patients cannot stand or walk. Hallucinations and delusions are common symptoms of this stage.
Parkinson’s disease occurs due to the death of motor neurons, some of which produce dopamine. Dopamine is important in the transmittance of messages to the muscles from the brain, so the loss of dopamine results in the loss of motor functions. Abnormal brain activity occurs when these neurons are lost. Doctors do not know why these motor neurons die, but they do suspect a few factors that play a role, such as genetics, environmental factors like toxins, and Lewy bodies.
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