According to Parkinson’s News Today, the Parkinson’s Foundation has released data from the PD GENEration study that shows that genetic testing is feasible for the larger Parkinson’s community. As around 15% of affected individuals have a genetic mutation, more testing could greatly improve the diagnostic process, treatment process, and knowledge about this disease.
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 slow 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.
Genetic Testing for Parkinson’s
The Parkinson’s Foundation and Biogen have been working on the PD GENEration study since 2019, which offers free genetic testing and counseling to Parkinson’s patients. 291 people have participated, 52 of which had a mutation related to the disease. This is about 17% of participants, which is slightly higher than the rate of most scientific estimates.
The seven genes that are tested for (GBA, LRRK2, PRKN, PINK1, PARK7, VPS-35, and SNCA) are associated with Parkinson’s but do not cause it. Medical professionals believe that the actual cause of this disease is a mix of environmental and genetic factors. This study is allowing them to learn more about the cause, which will hopefully improve the diagnostic and treatment process for patients.
As the study continues, the Parkinson’s Foundation plans to test 15,000 people. They also want to increase access to genetic testing, as it is not always affordable or available. There have been delays in these plans, especially because of the COVID-19 pandemic, but they are working diligently to ensure that we can learn more about this disease in order to improve the lives of patients.
Learn more about the Parkinson’s Foundation here.