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Loss-of-function variants in ITSN1 confer high risk of Parkinson’s disease
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| Titill: | Loss-of-function variants in ITSN1 confer high risk of Parkinson’s disease |
| Höfundur: |
... 13 fleiri höfundar Sýna alla höfunda |
| Útgáfa: | 2024-08-15 |
| Tungumál: | Enska |
| Umfang: | 815109 |
| Deild: | Faculty of Medicine Other departments Faculty of Icelandic and Comparative Cultural Studies |
| Birtist í: | npj Parkinson's Disease; 10(1) |
| ISSN: | 2373-8057 |
| DOI: | 10.1038/s41531-024-00752-9 |
| Efnisorð: | Öldrunarlæknisfræði; Taugasjúkdómafræði; Neurology; Neurology (clinical); Cellular and Molecular Neuroscience |
| URI: | https://hdl.handle.net/20.500.11815/5006 |
Tilvitnun:Skuladottir , A T , Tragante , V , Sveinbjornsson , G , Helgason , H , Sturluson , A , Bjornsdottir , A , Jónsson , P V , Pálmadóttir , V K , Sveinsson , O A , Jensson , B O , Gudjonsson , S A , Ivarsdottir , E V , Gisladottir , R S , Gunnarsson , A F , Walters , G B , Jonsdottir , G A , Thorgeirsson , T E , Bjornsdottir , G , Holm , H , Gudbjartsson , D F , Sulem , P , Stefansson , H & Stefansson , K 2024 , ' Loss-of-function variants in ITSN1 confer high risk of Parkinson’s disease ' , npj Parkinson's Disease , vol. 10 , no. 1 , 140 . https://doi.org/10.1038/s41531-024-00752-9
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Útdráttur: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.
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Athugasemdir:Publisher Copyright: © The Author(s) 2024.
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