Defective ATP13A2 gene can lead to Parkinson's disease, shows study

Defective ATP13A2 gene can lead to Parkinson's disease, shows study

Biomedical scientists at KU Leuven have discovered that a defect in the ATP13A2 gene causes cell death by disrupting the cellular transport of polyamines. When this happens in the part of the brain that controls body movement, it can lead to Parkinson's disease. With more than six million patients around the world, Parkinson's disease is one of the most common neurodegenerative disorders. Around twenty genetic defects have already been linked to the disease, but for several of these genes, we don't know what function they fulfil. The ATP13A2 gene used to be one of these genes, but researchers at KU Leuven have now discovered its function in the cell, explaining how a defect in the gene can cause Parkinson's disease. We found that 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. Our study reveals that ATP13A2 plays a vital role in that process." Peter Vangheluwe, senior author, Laboratory of Cellular Transport Systems, KU Leuven "Our experiments showed that polyamines enter the cell via lysosomes and that ATP13A2 transfers polyamines from the lysosome to the cell interior. This transport process is essential for lysosomes to function properly as the 'waste disposal system' of the cell where obsolete cell material is broken down and recycled." Related Stories



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