In a new study, researchers have discovered that a defect in a gene (ATP13A2) causes cell death.
When this happens in the part of the brain that controls body movement, it can lead to Parkinson’s disease.
The research was conducted by biomedical scientists at KU Leuven.
Parkinson’s disease is one of the most common neurodegenerative disorders, afflicting more than 6 million patients around the world.
Around 20 genetic defects have already been linked to the disease, but researchers don’t understand the function of many of these genes.
The researchers have now discovered how a defect of the ATP13A2 gene can cause Parkinson’s disease.
In the study, the team found that gene ATP13A2 transports polyamines and is crucial for their uptake into the cell.
Polyamines are essential molecules that support many cell functions and protect cells in stress conditions.
But how polyamines are taken up and transported in human cells was still a mystery. this study reveals that ATP13A2 plays a vital role in that process.
Their experiments showed that polyamines enter the cell and that gene ATP13A2 transfers polyamines to the cell interior.
This transport process is essential for the ‘waste disposal system’ of the cell, where obsolete cell material is broken down and recycled.
However, mutations in the ATP13A2 gene disrupt this transport process. As a result, the cells die.
When this happens in the part of the brain that controls body movement, this process may trigger the motion problems and tremors related to Parkinson’s disease.
Unraveling the role of ATP13A2 is an important step forward in Parkinson’s research and sheds new light on what causes the disease, but a lot of work remains to be done.
The new discovery has implications beyond Parkinson’s disease as well, because polyamine transporters also play a role in other age-related conditions, including cancer, heart diseases, and several neurological disorders.
The lead author of the study is Peter Vangheluwe from the Laboratory of Cellular Transport Systems at KU Leuven.
The study is published in Nature.
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