Research at AAN 2017 highlights research of genes that may help predict the likelihood of developing Parkinson disease and progression of the disease.
Studies from AAN 2017 presented research examining lysosomal storage disorder (LSD) genes associated with risk of Parkinson disease, questioning whether specific mutations of GBA gene impact progression of the disease, and tackling the challenge of utilizing whole-exome sequencing to identify genes linked to Parkinson disease risk in a large cohort of unrelated subjects.From materials presented at AAN Annual Meeting, Boston, MA. Best of: Parkinson Disease session. April 23, 2017.
Parkinson Disease: Genetic Findings
Excessive Burden of Lysosomal Storage Disorder Gene Variants in Parkinson’s Disease
In addition to GBA, which lysosomal storage disorder (LSD) genes are associated with risk of Parkinson disease?
“We propose an oligogenic model of PD, in which multiple genetic hits may act in combination to degrade lysosomal function, enhancing disease susceptibility.”
Neuropathic Gaucher’s Mutations: Shifting Parkinson’s into High Gear
Do specific mutations of GBA gene influence Parkinson disease progression?
Certain types of GBA mutations appear to be associated with more rapid cognitive decline.
Discovery and Systematic Functional Validation of Parkinson’s Disease Genes fromExome Sequencing
Can whole-exome sequencing be used to identify genes linked to Parkinson disease risk in a large cohort of unrelated subjects?
“Our integrative approach pinpoints several excellent PD susceptibility gene candidates for further investigation, and highlights a powerful experimental strategy with broad applicability for future studies of PD and other complex genetic disorders.”
