Predictive Analysis for Parkinson’s Disease

Parkinson’s disease is the second most common neurodegenerative disease after dementia.¹ Those affected are often between fifty-five and sixty years old at the time of diagnosis. However, some patients develop the disease at a younger age. A genetic analysis can provide clarity about the genetic risk of developing Parkinson’s disease. This means that you are prepared in the event of illness.

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Parkinson’s disease is a neurodegenerative disease. It is caused by dying nerve cells in the midbrain, especially in a brain region named substantia nigra (figure 1). The nerve cells (neurons) in this region are responsible for producing the neurotransmitter (messenger substance) dopamine.

Figure 1: The different areas of the brain.

Dopamine is essential for the communication between nerve cells and, therefore, for the fine adjustment of movement sequences. In Parkinson’s disease, there is an increased death of these dopamine-producing cells. As a result, movements can no longer be carried out correctly, and typical symptoms such as slow movement, stiffness, or tremors can occur. The disease can have various causes, whereby genetic variants can also play a role.

A neurotransmitter is a biochemical messenger that carries information between nerve cells (neurons) or, e.g., from nerve cell to muscle. Different types of neurotransmitters have different effects on the recipient cell. A distinction is made between inhibitory and excitatory signals.
The neurotransmitters are kept in vesicles (small bubbles) in the preceding nerve cell (presynapse). If a signal arrives at the end of a nerve cell, neurotransmitters are released into the synaptic cleft, the intermediate space to the next cell. Upon reaching the subsequent cell, the neurotransmitter binds to specific receptors and thereby transmits the signal to this cell (figure 2).

Figure 2: Transmission of stimuli via synapses. The signals are transmitted to the next nerve cell via the synaptic cleft using messenger substances (neurotransmitters). In Parkinson’s disease (right), the amount of neurotransmitters transmitted is insufficient compared to a healthy synapse (left).

Dopamine is of great relevance to Parkinson’s disease. It has an activating effect and ensures that movement sequences can take place in a coordinated manner. However, in the presence of Parkinson’s disease, not enough dopamine is present in the brain. The lack of dopamine inhibits the respective signal transduction, leading to impaired movement sequences and, therefore, impaired mobility (figure 2).

The causes of the development of Parkinson’s disease have not yet been finally clarified. Genetic factors as well as environmental factors, and a combination of these can cause the death of dopaminergic neurons. The lack of dopamine ultimately leads to the described limitations.

If an increased risk of Parkinson’s disease is identified, it is possible to react at an early stage and, if necessary, counteract with medication.

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(requestable via NGS Panel for Neurodegenerative Diseases on Page 3. For predictive analyses, you can also check the box “Proband is NOT aff ected (predictive testing)” at the top of page 2.)

¹ GBD 2017 Disease and Injury Incidence and Prevalence Collaborators. Global, regional, and national incidence, prevalence, and years lived with disability for 354 diseases and injuries for 195 countries and territories, 1990-2017: a systematic analysis for the Global Burden of Disease Study 2017. Lancet. 2018 Nov 10;392(10159):1789-1858. doi: 10.1016/S0140-6736(18)32279-7. Epub 2018 Nov 8. Erratum in: Lancet. 2019 Jun 22;393(10190):e44. PMID: 30496104; PMCID: PMC6227754.