| Title: |
Loss-of-function variants in ITSN1 confer high risk of Parkinson’s disease |
| Authors: |
Astros Th. Skuladottir, Vinicius Tragante, Gardar Sveinbjornsson, Hannes Helgason, Arni Sturluson, Anna Bjornsdottir, Palmi Jonsson, Vala Palmadottir, Olafur A. Sveinsson, Brynjar O. Jensson, Sigurjon A. Gudjonsson, Erna V. Ivarsdottir, Rosa S. Gisladottir, Arni F. Gunnarsson, G. Bragi Walters, Gudrun A. Jonsdottir, Thorgeir E. Thorgeirsson, Gyda Bjornsdottir, Hilma Holm, Daniel F. Gudbjartsson, Patrick Sulem, Hreinn Stefansson, Kari Stefansson |
| Source: |
npj Parkinson's Disease, Vol 10, Iss 1, Pp 1-4 (2024) |
| Publisher Information: |
Nature Portfolio, 2024. |
| Publication Year: |
2024 |
| Collection: |
LCC:Neurology. Diseases of the nervous system |
| Subject Terms: |
Neurology. Diseases of the nervous system, RC346-429 |
| More Details: |
Abstract Parkinson’s disease (PD) is a debilitating neurodegenerative disorder and its rising global incidence highlights the need for the identification of modifiable risk factors. In a gene-based burden test of rare variants (8647 PD cases and 777,693 controls) we discovered a novel association between loss-of-function variants in ITSN1 and PD. This association was further supported with burden data from the Neurodegenerative Disease Knowledge Portal and the Accelerating Medicines Partnership Parkinson’s Disease Knowledge Platform. Our findings show that Rho GTPases and disruptions in synaptic vesicle transport may be involved in the pathogenesis of PD, pointing to the possibility of novel therapeutic approaches. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
2373-8057 |
| Relation: |
https://doaj.org/toc/2373-8057 |
| DOI: |
10.1038/s41531-024-00752-9 |
| Access URL: |
https://doaj.org/article/9aa8f9c144d343d0b195882dbbc8bdcb |
| Accession Number: |
edsdoj.9aa8f9c144d343d0b195882dbbc8bdcb |
| Database: |
Directory of Open Access Journals |
