Have found genetic variants that increase the risk of Parkinson's Disease
Kári Stefánsson andÁstrós Th. Skúladóttir, the first author of the article on the study. Photo/Sent to mbl.is
The researchers of deCODE Genetics recently found rare genetic variations that increase the risk of Parkinson's disease, according to the announcement of the company. The discovery could raise hopes that it will be possible to develop new drugs for the disease.
It says that the genetic variation reduces the activity of ITSN1, which scientists believe has an effect on the pathogenesis of the disease.
An article about the study was published in the journal NPJ Parkinson's Disease, but the study used whole-sequencing data from Icelandic genetic analysis, UK Biobank in Great Britain, and Accelerating Medicines Partnership Parkinson's disease in the United States.
Last year it was estimated that people suffering from Parkinson's Disease were more than 10 million worldwide. Most people get the disease after sixty years of age but one in ten before they are fifty years old. mbl.is/Eggert Jóhannesson
New drugs possible
In the announcement of the deCODE Genetics it says:
"The role of ITSN1, Intersectin-1, is to activate CDC42, a small Rho GTPase involved in the growth and maintenance of dopamine neurons and the regulation of synaptic exocytosis of α-synuclein, a protein that accumulates abnormally in individuals with Parkinson's disease."
The researchers believe that the loss of function of ITSN1 affects the pathogenesis of the disease by not activating CDC42 and its signaling pathways, resulting in the degradation of dopamine neurons and abnormal accumulation of α-synuclein, and/or disruption of clathrin-dependent vesicular transport as well as import and exocytosis at the synapse.
This suggests that by targeting CDC42 or its regulator, ITSN1, it would be possible to develop new drugs for the disease."
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