A significant discovery was made by an international team of researchers who identified a new gene associated with Parkinson's disease, opening up 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 the RAB32 Ser71Arg, associated with significantly increased risk of Parkinson's disease. This finding comes from large genome-wide association studies (GWAS) that analyzed genetic data from more than 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 between various international centers, collecting a large sample of data to ensure genetic diversity. Advanced techniques were used to analyze the impact of mutation on proteins. The results were published in high-impact scientific journals, allowing critical review by the scientific community. This discovery could lead to developments in therapeutic strategies To improve the quality of life for patients with Parkinson's disease.
The RAB32 gene what is it and what is it for?
The gene RAB32 produces a protein that performs several functions in cells, including internal transport of substances and autophagy, a process that allows cells to clean themselves up by removing and recycling damaged or unnecessary components, keeping them healthy and functional.
The Ser71Arg mutation in the RAB32 gene results in a Alteration of structure and function of the protein, leading to cellular problems. Although the exact effects of this mutation are still being studied, it is known that it can contribute to the development of Parkinson's disease.
In fact, 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 to mitochondria, The energy powerhouses of the cells, causing cellular damage and nerve cell death. Mutations that increase LRRK2 activity are already known to play a role in the development of Parkinson's disease.
The importance of LRRK2 in cellular regulation
The discovery of the RAB32 Ser71Arg mutation has Improved understanding of the mechanisms of Parkinson's disease, showing how it affects the activity of the LRRK2 protein. The latter protein is crucial for several cellular functions, including communication between lysosomes and mitochondria. I lysosomes are organelles responsible for recycling damaged cellular materials, transforming them into amino acids that are then used by the mitochondria for produce energy, termed for this reason the “powerhouses” of the cell.
Under normal conditions, LRRK2 maintains the balance between production and degradation of cellular components. However, LRRK2 overactivity can cause dysfunction, preventing lysosomes from properly degrading cellular materials and disrupting the supply of amino acids to the mitochondria. This leads to reduced energy production and degeneration of cells Nervous, causing motor and cognitive disorders. In addition, LRRK2 overactivity can disrupt physical contact between lysosomes and mitochondria, further exacerbating dysfunction.
Implications for research and therapy
This finding suggests that Restoring contact between lysosomes and mitochondria could be a new therapeutic strategy for Parkinson's disease. Genetic and pharmacological manipulation to modulate LRRK2 activity and improve communication between these organelles offers promising avenues of research.
Understanding also how the RAB32 and LRRK2 proteins interact could lead to new therapies that modulate the activity of these proteins, helping to prevent or slow Parkinson's progression. Preclinical studies are exploring molecules to restore these cellular functions, with the goal of developing therapeutic approaches for Parkinson's disease and improving patients' quality of life.
Innovative Parkinson's therapies: Gondola AMPS
AMPS Gondola (Automated Mechanical Peripheral Stimulation) is an innovative therapy for Parkinson's disease that mechanically stimulates two specific points on the soles of the feet. Clinical studies have shown that this therapy can improve mobility and reduce walking and balance problems in patients with Parkinson's disease.
Stimulation activates skin receptors, which send signals to the central nervous system, enhancing 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 used in combination with other drug treatments, offering A complementary option and enhancing the overall beneficial effects For patients.
Several clinical trials have shown how Gondola AMPS therapy improves walking and balance symptoms in patients with Parkinson's disease, reducing time to complete walking tests and increasing fluidity of movement.
AMPS gondola: mechanisms of action and promising results
An interesting aspect of the Gondola AMPS therapy concerns the BDNF (Brain-Derived Neurotrophic Factor), a protein essential for neuronal health and synaptic plasticity, that is, the ability of connections between neurons to change based on what we do and learn. In patients with Parkinson's disease, Low BDNF levels are associated with worse symptoms. Studies suggest that AMPS therapy could increase BDNF levels, improving brain activity and functional connectivity between areas of the brain involved in motor control.
One study observed that a single session of AMPS can positively modulate cerebral connectivitye. Another study confirmed that eight sessions of AMPS significantly increased BDNF levels., improving gait speed, stride length and postural stability. These results indicate that AMPS therapy can improve motor symptoms and brain function in patients with Parkinson's disease.
The discovery of the RAB32 gene and new knowledge represent An important step forward in understanding Parkinson's. These advances, along with innovative therapies such as the AMPS Gondola, offer new hope for improving disease management. Research continues to unravel the complex mechanisms underlying Parkinson's disease, Moving ever closer to effective therapies that can significantly improve patients' lives.
This overview of recent genetic discovery and new therapies shows how much is important to continue to do research and collaborate internationally to combat complex neurodegenerative diseases such as 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
- https://www.parkinsons.ie/news/2023/07/08/new-gene-for-parkinsons-disease-discovered/
- Tombesi G, Kompella S, Favetta G, et al. LRRK2 regulates synaptic function through BDNF signaling and actin cytoskeleton eLife 2024, 13:RP95987
- Galli M, Vicidomini C, Rozin Kleiner AF, et al. Peripheral neurostimulation breaks the shuffling steps patterns in Parkinsonian gait: a double blind randomized longitudinal study with automated mechanical peripheral stimulation.Eur J Phys Rehabil Med. 2018;54(6):860-865.
- 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.
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