Researchers have identified a group of genetic variants related to the starting point of Parkinson disease.
Researchers have identified a group of genetic variants related to the starting point of Parkinson disease, possibly enabling research for new therapeutic targets, according to a recent study published by Movement Disorders.
The researchers evaluated genetic markers—DNA segments with chromosome-identifiable locations—that adjust the starting age of the disease. The study collected blood samples from more than 900 patients of a hospital clinic to evaluate these genetic markers.
“Single nucleotide polymorphisms (SNPs) in the α‐synuclein (SNCA) gene are associated with differential risk and age at onset (AAO) of both idiopathic and Leucine‐rich repeat kinase 2 (LRRK2)‐associated Parkinson's disease (PD),” the study explained. “Yet potential combinatory or synergistic effects among several modulatory SNPs for PD risk or AAO remain largely underexplored.”
The blood sample results demonstrated that a group of genetic markers of the mTOR metabolic pathway, combined, contribute to adjust the starting age of Parkinson disease, the authors explained.
"There are known genetic markers, such as the genetic markers of the synuclein gene, which are associated with an earlier start of the symptoms, but in this study we focused on the influence of the association of other markers which were not known yet," Cristina Malagelada, UBNeuro researcher, said in a statement.
Additionally, identifying this group of markers, which links the neuronal survival, synaptic plasticity, and protein synthesis, an independent second population of affected patients of 4000 patients can be confirmed.
“Identifying this group of markers that influence each other and which condition the starting point of the disease allow delimiting the research of new therapeutic targets in these candidate genes,” noted Malagelada.
Fernández‐Santiago R, Martín‐Flores N, Antonelli F, et al. SNCA and mTOR pathway single nucleotide polymorphisms interact to modulate the age at onset of Parkinson's disease. Movement Disorders, 2019;34(9):1333. doi:10.1002/mds.27770.