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- Bryois, J., et al.
(författare)
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Genetic identification of cell types underlying brain complex traits yields insights into the etiology of Parkinson’s disease
- 2020
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Ingår i: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 52:5, s. 482-493
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Tidskriftsartikel (refereegranskat)abstract
- Genome-wide association studies have discovered hundreds of loci associated with complex brain disorders, but it remains unclear in which cell types these loci are active. Here we integrate genome-wide association study results with single-cell transcriptomic data from the entire mouse nervous system to systematically identify cell types underlying brain complex traits. We show that psychiatric disorders are predominantly associated with projecting excitatory and inhibitory neurons. Neurological diseases were associated with different cell types, which is consistent with other lines of evidence. Notably, Parkinson’s disease was genetically associated not only with cholinergic and monoaminergic neurons (which include dopaminergic neurons) but also with enteric neurons and oligodendrocytes. Using post-mortem brain transcriptomic data, we confirmed alterations in these cells, even at the earliest stages of disease progression. Our study provides an important framework for understanding the cellular basis of complex brain maladies, and reveals an unexpected role of oligodendrocytes in Parkinson’s disease. © 2020, The Author(s), under exclusive licence to Springer Nature America, Inc.
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- Delage, F., et al.
(författare)
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ADS fuel developments in Europe : Results from the EUROTRANS integrated project
- 2011
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Ingår i: Energy Procedia. - : Elsevier BV. ; , s. 303-313
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Konferensbidrag (refereegranskat)abstract
- Fuels to be used in Accelerator Driven Systems dedicated to Minor Actinides transmutation can be described as highly innovative in comparison with those used in critical cores. Indeed, ADS fuels are not fertile, so as to improve the transmutation performance and they contain high volumetric concentrations (∼50%) of minor actinides and plutonium compounds. This unusual fuel composition results in high gamma and neutron emissions during its fabrication, as well as degraded performances under irradiation. Ceramic-Ceramic and Ceramic Metallic composite fuels consisting of particles of (Pu, MA)O2 phases dispersed in a magnesia or molybdenum matrix were investigated within the European Research programme for Transmutation, as driver fuels for a prospective 400MWth transmuter: the European Facility for Industrial Transmutation. Fuel performances and safety of preliminary core designs were evaluated to support the project. Out -of-pile as well as in-pile experiments were carried out to gain essential knowledge on properties and behaviour under irradiation of these types of fuel. This paper gives an overview of experimental results within the project.
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- Hautakangas, H, et al.
(författare)
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Genome-wide analysis of 102,084 migraine cases identifies 123 risk loci and subtype-specific risk alleles
- 2022
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Ingår i: Nature genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 54:2, s. 152-
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Tidskriftsartikel (refereegranskat)abstract
- Migraine affects over a billion individuals worldwide but its genetic underpinning remains largely unknown. Here, we performed a genome-wide association study of 102,084 migraine cases and 771,257 controls and identified 123 loci, of which 86 are previously unknown. These loci provide an opportunity to evaluate shared and distinct genetic components in the two main migraine subtypes: migraine with aura and migraine without aura. Stratification of the risk loci using 29,679 cases with subtype information indicated three risk variants that seem specific for migraine with aura (in HMOX2, CACNA1A and MPPED2), two that seem specific for migraine without aura (near SPINK2 and near FECH) and nine that increase susceptibility for migraine regardless of subtype. The new risk loci include genes encoding recent migraine-specific drug targets, namely calcitonin gene-related peptide (CALCA/CALCB) and serotonin 1F receptor (HTR1F). Overall, genomic annotations among migraine-associated variants were enriched in both vascular and central nervous system tissue/cell types, supporting unequivocally that neurovascular mechanisms underlie migraine pathophysiology.
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