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Screening DNA of Parkinson’s patients in the Christine Van Broeckhoven laboratory (VIB-UAntwerpen Center for Molecular Neurology) identified a new risk gene for Parkinson’s disease. Mutations in ATP10B resulted in loss of ATP10B protein. The function of the ATP10B gene was revealed by the Peter Vangheluwe lab (KU Leuven, Laboratory of Cellular Transport Systems). They identified ATP10B as a transporter for glucosylceramide, a lipid that plays a central role in Parkinson’s disease. Disease mutations disturb this function. Also, a reduced expression of ATP10B leads to neuronal loss and sensitizes neurons to environmental risk factors of Parkinson’s disease. Therefore, ATP10B is emerging as an interesting therapeutic target for Parkinson’s disease.



Parkinson’s disease affects over 10 million people worldwide and more than 2 million people in Europe. Clinically, patients display a variety of motor and non-motor symptoms, impeding their ability to perform basic everyday activities. With currently no effective therapy, the chronic and progressive nature of Parkinson’s disease has a profound impact on the quality of life of patients and caregivers.



The identification of Parkinson’s disease genes and mutations contributed substantially to our understanding of the underlying disease mechanisms. In 5 to 15% of Parkinson’s patients, genetic studies identified mutations in different genes that explained the segregation of disease in Parkinson’s families between generations. Familial mutations are considered high penetrant, meaning that the carrier of the mutation is highly likely to get Parkinson’s disease during lifespan. In the larger part of non-familial Parkinson’s patients, so-called sporadic patients, much less is known of the genetic contribution to Parkinson’s disease, but several genes have been associated with increased genetic disease risk. In sporadic patients, different risk genes and mutations, in combination with environmental factors, might contribute to the overall genetic etiology of sporadic Parkinson’s disease.





Identification of the ATP10B gene





From risk gene to disease mechanism





A new potential target for therapeutic intervention



