One of the talks from this semester was given by Dr. Mary Markarious , who presented about the topic of Parkinson's disease and the Global Parkinson's Genetic team(GP2). Their goal is to study the genetic diversity across populations to better understand the disease to find a solutions. To prepare, we had to read the article, "Tackling a disease on a global scale, Global Parkinson's Genetic Program,GP2: A New Generation of Opportunities". The article begins by introducing Parkinson's disease as a clinical diagnosis given when neuropathological changes occur at post mortem. The article explains that in the first few years after the diagnosis, individuals receive symptomatic treatment, typically having positive responses to it. Sadly, as the disease progressions, around the 8 years after the diagnosis mark, signs of the PD worsening begin to show. These include death, only 8% of people have died, balance issues, cognitive impairment and dementia. The basic purpose of the research on Parkinson's is to find out the cause and risks of the disease that is still unknown. The article then goes on to talk about the PD genetics research being conducted to figure out what genetics variants could be at play that could cause the disease. Results have shown that there are a dozen genes that contain disease causing mutations, high risk and over a 100 variants containing risk alleles for the disease were discovered.For example, mutations in genes such as LRRK2, SNCA, RAB32, and VPS3 increase disease risk, while mutations in PINK1, PRKN, and PARK7 cause disease only when both gene copies are affected. Interestingly enough, PD is linked to mutations in all 7 genes which varies in itself. The authors provide examples that show how each gene when mutated affects the disease in its own way. Importantly, PD is not 100% heritable. More researches are being conducted to figure out what the common variant genetic architecture of PD. The purpose of this genetic research is to use genetics as a way to predict the disease risks and what variants can be used to modify the expression of PD-causing genes. The primary subject of the article has made me question whether gender and the genes that are specific to each gender might exacerbate or prevent Parkinson's disease.
The article, " Parkinson's Disease in Women and Men: What's the Difference ?", by Silvia Cerri, Liudmila Mus, and Fabio Blandini. The authors emphasize that sex is a key factor in how PD develops and progresses.The article also discusses the differences between PD in women and men, the risks, motor and non-motor symptoms and responses to treatment.Men are about twice as likely to develop PD, yet women often experience faster progression, higher mortality, and greater impact of dementia. The authors found differences in motor and non motor symptoms. For women, the motor symptoms show up later in women than they do in men. These symptoms include reduced rigidity tremor, elevated risk for levodopa-related complications and postural instability( meaning they are prone to fall more). On the other hand, men are more prone to camptocormia, an abnormal severe forward flexion of the trunk and freezing of gait. These both develop in the later stages of PD. For non motor symptoms, women tend to experience fatigue, depression, restless legs, constipation, pain, loss of taste and smell, weight change and excessive sweating. For women, the onset of PD with dementia also seems to have a greater negative impact on their quality of life than men. When it comes to genetics and risk factors, they found that urate, an endogenous purine metabolite, is correlated with reducing risks of PD progression. However, men have shown to have higher levels of urate than women, which has aided in slowing the progression of the disease down. Other findings have shown that there are sex-dependent associations with progressions of PD. The last parts of the article talk about potentials treatments that could be done based off the findings. Overall, studies show that men and women's bodies react differently to Parkinson's disease and there is a sex-related link to the progression of the disease that might be able to be solved genetically.
References:
Blauwendraat et al., 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 (2025),
https://doi.org/10.1016/j.ajhg.2025.07.014
Cerri, Silvia et al. “Parkinson's Disease in Women and Men: What's the Difference?.” Journal of
Parkinson's disease vol. 9,3 (2019): 501-515. doi:10.3233/JPD-191683
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