The latest research reveals the mechanism of Parkinson's disease caused by atp13a2 gene defect

In a new study, researchers from the Catholic University of Leuven in Belgium found that atp13a2 gene defects cause cell death by destroying cellular transport of polyamines When this happens in the part of the brain that controls body movement, it can lead to Parkinson's disease The related research results were published online in the nature Journal on January 29, 2020, and the paper title is "atp13a2 deficiency disruptions lysosomal polypropylene export" Immunohistochemical analysis of α - synuclein in substantia nigra of Parkinson's disease showed a positive staining (brown) of Lewisite in the nerve Parkinson's disease is one of the most common neurodegenerative diseases, afflicting more than 6 million patients worldwide About 20 genetic defects have been linked to the disease, but the function of many of them is not known Now, these researchers have discovered how defects in the atp13a2 gene can cause Parkinson's disease "We found that atp13a2 can transport polyamines, and it is very important for the absorption of polyamines," explains Peter vangheluwe, co-author of the paper and cell transport system laboratory at the Catholic University of Leuven Polyamines are essential molecules to support many cell functions and protect cells under stress But how polyamines are absorbed and transported in human cells remains a mystery Our research shows that atp13a2 plays a crucial role in this process " "Our experiments show that polyamines enter cells through lysosomes, and atp13a2 transfers polyamines from lysosomes to cells This transport process is essential for the normal functioning of lysosomes as a 'waste treatment system' of cells, where waste cellular material is degraded and recycled " "However, mutations in the atp13a2 gene disrupt this transport process, so polyamines accumulate in lysosomes As a result, lysosomes swell and eventually rupture, leading to cell death When this happens in the part of the brain that controls the body's movements, the process can cause movement problems and tremors associated with Parkinson's disease " Revealing the role of atp13a2 is an important step in the study of Parkinson's disease, and provides new insights into the causes of the disease, but there are still many research work to be carried out "We must now look at the link between polyamine transport defects and other defects in Parkinson's disease, such as plaque accumulation in the brain and mitochondrial dysfunction," vangheluwe said We need to look at how these mechanisms interact " "The discovery of polyamine transporters in animals also has an impact on diseases other than Parkinson's disease, because they also play a role in other age-related diseases, including cancer, cardiovascular disease and several neurological diseases." Given that this study reveals the role of atp13a2, these researchers can start looking for molecules that affect its function reference: 1.arah van Veen et al ATP13A2 deficiency disrupts lysosomal polyamine export Nature, 2020, doi:10.1038/s41586-020-1968-7