Defects in cell’s ‘waste disposal system’ linked to Parkinson’s
Genetics links pediatric condition to risk for a disease that usually affects adults
Lysosomal storage disorders are predominantly diagnosed in children. Thanks to the combined expertise of adult neurologists specializing in Parkinson’s disease and both pediatricians and geneticists focusing on childhood lysosomal disorders, the research team was able to make a connection between childhood conditions and the risk for Parkinson’s disease later in life.
“We studied the largest Parkinson’s disease genetic dataset currently available and found that, although each of the damaging mutations within these genes is individually uncommon, they are common as a group within the Parkinson’s cohort,” said corresponding authors Dr. Joshua Shulman, assistant professor of neurology, neuroscience and molecular and human genetics at Baylor College of Medicine and investigator at the Jan and Dan Duncan Neurological Research Institute at Texas Children’s Hospital.
The researchers found at least one of the damaging mutations in more than half of the cohort. Twenty percent carry more than one damaging mutation.
“Although more research remains to be done, these data suggest the interesting possibility that damage to the lysosome might be at the core of Parkinson’s disease,” Shulman said. “It might be possible that Parkinson’s disease and lysosomal storage disorders have similar fundamental biological mechanisms.”
“Better understanding the genetics of Parkinson’s disease is important because it can lead to improved diagnosis, more insights on how the disease develops and progresses and perhaps suggest new therapies,” Robak said.
Other contributors to this work include Iris E. Jansen, Jeroen van Rooij, André G. Uitterlinden, Robert Kraaij, Joseph Jankovic, the International Parkinson’s Disease Genomics Consortium and Peter Heutink. The authors are affiliated with one or more of the following institutions: Baylor College of Medicine, Jan and Dan Duncan Neurologic Research Institute, Texas Children’s Hospital, German Center for Neurodegenerative Diseases, VU University Medical Center, Erasmus MC and Netherlands Consortium for Healthy Ageing.
For a complete list of financial support sources, see the publication.