GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study

Dementia with Lewy Bodies (DLB) is a common neurodegenerative disorder with poor prognosis and mainly unknown pathophysiology. Heritability estimates exceed 30% but few genetic risk variants have been identified. Here we investigated common genetic variants associated with DLB in a large European multisite sample. We performed a genome wide association study in Norwegian and European cohorts of 720 DLB cases and 6490 controls and included 19 top-associated single-nucleotide polymorphisms in an additional cohort of 108 DLB cases and 75545 controls from Iceland. Overall the study included 828 DLB cases and 82035 controls. Variants in the ASH1L/GBA (Chr1q22) and APOE ε4 (Chr19) loci were associated with DLB surpassing the genome-wide significance threshold (p < 5 × 10). One additional genetic locus previously linked to psychosis in Alzheimer's disease, ZFPM1 (Chr16q24.2), showed suggestive association with DLB at p-value < 1 × 10. We report two susceptibility loci for DLB at genome-wide significance, providing insight into etiological factors. These findings highlight the complex relationship between the genetic architecture of DLB and other neurodegenerative disorders

New constraints on ultraheavy dark matter from the LZ experiment

Searches for dark matter with liquid xenon time projection chamber experiments have traditionally focused on the region of the parameter space that is characteristic of weakly interacting massive particles, ranging from a few GeV/c2 to a few TeV/c2. Models of dark matter with a mass much heavier than this are well motivated by early production mechanisms different from the standard thermal freeze-out, but they have generally been less explored experimentally. In this work, we present a reanalysis of the first science run of the LZ experiment, with an exposure of 0.9  tonne×yr, to search for ultraheavy particle dark matter. The signal topology consists of multiple energy deposits in the active region of the detector forming a straight line, from which the velocity of the incoming particle can be reconstructed on an event-by-event basis. Zero events with this topology were observed after applying the data selection calibrated on a simulated sample of signal-like events. New experimental constraints are derived, which rule out previously unexplored regions of the dark matter parameter space of spin-independent interactions beyond a mass of 1017  GeV/c2. Published by the American Physical Society 2024 </jats:sec

New evidence links changing shelf phytoplankton communities to boundary currents in southeast Tasmania

Southern Tasmanian shelf waters are host to the seasonal interplay of Australia's two poleward boundary currents; the East Australian Current (EAC) and the Leeuwin Current (LC). While the behaviour and properties of the LC remain underexplored, strong research focus has allowed insight into how an intensifying EAC has created greater subtropical influence, leading to changes in the physical and biological oceanography of the region. In this cool temperate setting seven species of dinoflagellates, all in the genus Ceratium, which are more typically associated with warm waters of eastern Australia, were observed. This coincided with the seasonal increase in the EAC's southward penetration beginning in October. Despite the seasonal peak in EAC activity, temperature-salinity plots, nutrient, chlorophyll a and phytoplankton concentrations all indicate the presence of subantarctic waters on the shelf and in coastal waters in summer. Our results are consistent with the description of the EAC as an erratic, eddy-driven current; this itself allowing the periodic influx of subantarctic waters across the shelf. In winter, temperature-salinity plots and nutrient concentrations indicate that the LC was present in southern shelf waters. In addition to its high nitrate signature, the LC displayed low silicate properties in southern Tasmania. Chlorophyll a concentrations revealed a distinct spring bloom event and an extended, productive summer, typical of temperate and subantarctic systems, respectively. This suggests the region is a transitional state between classic seasonal primary production cycles for temperate and subantarctic waters. This paper links changes in southern Tasmanian microphytoplankton communities to shelf ventilation by the EAC, the LC and subantarctic waters, and provides new insight into the oceanography of the region. Consequently, this study provides an awareness of potential phytoplankton perturbations that may be applied to other coastal cool temperate marine environments