Recently, an international team of researchers made a significant discovery: They identified a new gene associated with Parkinson’s disease, opening new possibilities for diagnosis and treatment. This discovery enriches our understanding of the genetic mechanisms that contribute to Parkinson’s and could revolutionize the way we treat this disease.
The discovery of the new gene
Scientists have identified a genetic mutation called RAB32 Ser71Arg, associated with a significant increase in the risk of Parkinson’s. This result comes from extensive genome-wide association studies (GWAS) that analyzed genetic data from over 2,100 Parkinson’s patients and 70,000 healthy volunteers. The mutation was found in families from different regions of the world, suggesting a possible common ancestral origin.
The research was coordinated among various international centers, collecting a large sample of data to ensure genetic diversity. Advanced techniques were used to analyze the mutation’s impact on proteins. The results were published in high-impact scientific journals, allowing for critical review by the scientific community. This discovery could lead to developments in therapeutic strategies to improve the quality of life for Parkinson’s patients.
What is the RAB32 gene, and what does it do?
The RAB32 gene produces a protein that performs various functions within cells. One is the internal transport of substances and autophagy, a process that allows cells to cleanse themselves by eliminating and recycling damaged or unnecessary components, keeping them healthy and functional.
The Ser71Arg mutation in the RAB32 gene causes a change in the protein’s structure and function, leading to cellular problems. Although the exact effects of this mutation are still under study, it is known that it can contribute to the development of Parkinson’s.
The Ser71Arg mutation is linked to increased activity of a protein called LRRK2, an enzyme that regulates various cellular functions, including autophagy and immune response. When LRRK2 is too active, it can damage mitochondria, the cell’s powerhouses, causing cellular damage and nerve cell death. Mutations that increase LRRK2 activity are already known for their role in the development of Parkinson’s.
The importance of LRRK2 in cellular regulation
The discovery of the RAB32 Ser71Arg mutation has improved the understanding of Parkinson’s mechanisms, showing how it affects the activity of the LRRK2 protein. This protein is crucial for various cellular functions, including communication between lysosomes and mitochondria. Lysosomes are organelles responsible for recycling damaged cellular materials, transforming them into amino acids that are then used by mitochondria to produce energy, hence they are called the “powerhouses” of the cell.
Under normal conditions, LRRK2 maintains the balance between the production and degradation of cellular components. However, LRRK2 hyperactivity can cause dysfunctions, preventing lysosomes from properly degrading cellular materials and disrupting the supply of amino acids to the mitochondria. This leads to reduced energy production and the degeneration of nerve cells, causing motor and cognitive disorders. Additionally, LRRK2 hyperactivity can disrupt the physical contact between lysosomes and mitochondria, further aggravating dysfunctions.
Implications for research and therapy
This discovery suggests that restoring contact between lysosomes and mitochondria could be a new therapeutic strategy for Parkinson’s. Genetic and pharmacological manipulation to modulate LRRK2 activity and improve communication between these organelles offers promising research avenues.
Understanding how RAB32 and LRRK2 proteins interact could lead to new therapies that modulate their activity, helping to prevent or slow the progression of Parkinson’s. Preclinical studies are exploring molecules to restore these cellular functions, with the goal of developing therapeutic approaches for Parkinson’s and improving patients’ quality of life.
Innovative Parkinson’s therapies: Gondola AMPS
Gondola AMPS (Automated Mechanical Peripheral Stimulation) is an innovative therapy for Parkinson’s that mechanically stimulates two specific points on the soles of the feet. Clinical studies have shown that this therapy can improve mobility and reduce gait and balance problems in Parkinson’s patients.
The stimulation activates cutaneous receptors, which send signals to the central nervous system, improving the neural circuits responsible for motor control. This leads to better coordination and stability, reducing the risk of falls and improving the quality of life.
Gondola AMPS therapy is non-invasive and free of side effects, making it safe and well-tolerated. It can be combined with other pharmacological treatments, offering a complementary option and enhancing the overall beneficial effects for patients.
Several clinical studies have demonstrated how Gondola AMPS therapy improves walking and balance symptoms in Parkinson’s patients, reducing the time to complete walking tests and increasing the fluidity of movements.
Gondola AMPS: mechanisms of action and promising results
An interesting aspect of Gondola AMPS therapy involves BDNF (Brain-Derived Neurotrophic Factor), an essential protein for neuronal health and synaptic plasticity, that is, the ability of connections between neurons to change based on what we do and learn. In Parkinson’s patients, low levels of BDNF are associated with worse symptoms. Studies suggest that AMPS therapy could increase BDNF levels, improving brain activity and functional connectivity between brain areas involved in motor control.
One study observed that a single session of AMPS can positively modulate brain connectivity. Another study confirmed that eight sessions of AMPS significantly increase BDNF levels, improving walking speed, step length, and postural stability. These results indicate that AMPS therapy can improve motor symptoms and brain functionality in Parkinson’s patients.
The discovery of the RAB32 gene and new insights represent a significant step forward in understanding Parkinson’s. These advances, along with innovative therapies like Gondola AMPS, offer new hope for improving disease management. Research continues to uncover the complex mechanisms underlying Parkinson’s, bringing us ever closer to effective therapies that can significantly improve patients’ lives.
This overview of recent genetic discoveries and new therapies shows how important it is to continue research and collaborate internationally to combat complex neurodegenerative diseases like Parkinson’s.
References:
- New therapeutic target for Parkinson’s disease discovered | ScienceDaily
- https://www.sciencedaily.com/releases/2023/07/230719145938.htm
- Newly discovered genetic variant that causes Parkinson’s disease clarifies why the condition develops and how to halt it | Medical Xpress
- https://medicalxpress.com/news/2023-07-genetic-variant-parkinson-disease-condition.html
- Gene Mutation Discovery Reveals New Therapeutic Target for Parkinson’s Disease | SciTechDaily
- https://scitechdaily.com/gene-mutation-discovery-reveals-new-therapeutic-target-for-parkinsons-disease/
- UF-led researchers link new genetic mutation to increased risk of Parkinson’s | McKnight Brain Institute, University of Florida
- https://mbi.ufl.edu/2023/07/08/uf-led-researchers-link-new-genetic-mutation-to-increased-risk-of-parkinsons/
- New gene for Parkinson’s Disease discovered – Parkinson’s Ireland
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- Tombesi G, Kompella S, Favetta G, et al. LRRK2 regulates synaptic function through BDNF signaling and actin cytoskeleton eLife 2024, 13:RP95987
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- Quattrocchi CC, de Pandis MF, Piervincenzi C, et al. Acute Modulation of Brain Connectivity in Parkinson Disease after Automatic Mechanical Peripheral Stimulation: A Pilot Study. PLoS One. 2015;10(10):e0137977. Published 2015 Oct 15.