https://www.novareader.co Default RSS Feed en-us Newgen KnowledgeWorks https://www.novareader.co/book/isbn/10.1002/ana.26021 In this work, we describe the association of a novel homozygous VPS11 variant with adult‐onset generalized dystonia, providing a detailed clinical report and biological evidence of disease mechanism. Vps11 is a subunit of the homotypic fusion and protein sorting (HOPS) complex, which promotes the fusion of late endosomes and autophagosomes with the lysosome. Functional studies on mutated fibroblasts showed marked lysosomal and autophagic abnormalities, which improved after overexpression of the wild type Vps11 protein. In conclusion, a deleterious VPS11 variant, damaging the autophagic and lysosomal pathways, is the probable genetic cause of a novel form of generalized dystonia. ANN NEUROL 2021;89:834–839

]]> https://www.novareader.co/book/isbn/10.1007/s12403-020-00377-2 Inorganic arsenic exposure has been linked to the development of several health conditions, including adverse birth outcomes, and around 150 million of people worldwide are exposed to levels above the WHO suggested limit of 10 μg/L. A recent risk assessment in pregnant women of Tacna, of this same population performed by our group, found that 70.25% were exposed to arsenic concentrations in drinking water ≥ 25 μg/L. The present study aimed to evaluate the relationship between prenatal total urinary arsenic (U-tAs) and inorganic arsenic (U-iAs) with adverse birth outcomes. A total of 147 pregnant women from the province of Tacna, Peru, during February–March, 2019, were evaluated for U-tAs and U-iAs exposure during their second trimester of pregnancy, while the birth records of their children were collected from the local hospital. The geometric mean U-tAs was 43.97 ± 25.88 μg/L (P₅₀ 22.30, range 5.99–181.94 μg/L) and U-iAs was 5.27 ± 2.91 μg/L. Controlling for maternal age, pre-pregnancy BMI, parity, mother’s education, and newborn sex, no relationship was observed between tertile of U-tAs and the birth outcomes considered, although we found an apparent but statistically non-significant dose–response relationship for small for gestational age 2.38% (95% CI 0.003, 0.16), versus 7.32% (95% CI 0.02, 0.21%), and versus 8.57% (95% CI 0.03, 0.25%). This finding requires further evaluation considering other factors such as metabolic arsenic species, additional maternal covariates, and ethnicity.

]]> https://www.novareader.co/book/isbn/10.1038/s41396-020-00776-y Throughout the open ocean, a minimum in dissolved iron concentration (dFe) overlaps with the deep chlorophyll maximum (DCM), which marks the lower limit of the euphotic zone. Maximizing light capture in these dim waters is expected to require upregulation of Fe-bearing photosystems, further depleting dFe and possibly leading to co-limitation by both iron and light. However, this effect has not been quantified for important phytoplankton groups like Prochlorococcus, which contributes most of the productivity in the oligotrophic DCM. Here, we present culture experiments with Prochlorococcus strain MIT1214, a member of the Low Light 1 ecotype isolated from the DCM in the North Pacific subtropical gyre. Under a matrix of iron and irradiance matching those found at the DCM, the ratio of Fe to carbon in Prochlorococcus MIT1214 cells ranged from 10–40 × 10⁻⁶ mol Fe:mol C and increased with light intensity and growth rate. These results challenge theoretical models predicting highest Fe:C at lowest light intensity, and are best explained by a large photosynthetic Fe demand that is not downregulated at higher light. To sustain primary production in the DCM with the rigid Fe requirements of low-light-adapted Prochlorococcus, dFe must be recycled rapidly and at high efficiency.

]]> https://www.novareader.co/book/isbn/10.1038/s41396-020-00761-5 Stable isotope probing (SIP) is a key tool for identifying the microorganisms catalyzing the turnover of specific substrates in the environment and to quantify their relative contributions to biogeochemical processes. However, SIP-based studies are subject to the uncertainties posed by cross-feeding, where microorganisms release isotopically labeled products, which are then used by other microorganisms, instead of incorporating the added tracer directly. Here, we introduce a SIP approach that has the potential to strongly reduce cross-feeding in complex microbial communities. In this approach, the microbial cells are exposed on a membrane filter to a continuous flow of medium containing isotopically labeled substrate. Thereby, metabolites and degradation products are constantly removed, preventing consumption of these secondary substrates. A nanoSIMS-based proof-of-concept experiment using nitrifiers in activated sludge and ¹³C-bicarbonate as an activity tracer showed that Flow-SIP significantly reduces cross-feeding and thus allows distinguishing primary consumers from other members of microbial food webs.

]]> https://www.novareader.co/book/isbn/10.1038/s41396-020-00742-8 Increases in seawater temperature can cause coral bleaching through loss of symbiotic algae (dinoflagellates of the family Symbiodiniaceae). Corals can recover from bleaching by recruiting algae into host cells from the residual symbiont population or from the external environment. However, the high coral mortality that often follows mass-bleaching events suggests that recovery is often limited in the wild. Here, we examine the effect of pre-exposure to heat stress on the capacity of symbiotic algae to infect cnidarian hosts using the Aiptasia (sea-anemone)-Symbiodiniaceae model system. We found that the symbiont strain Breviolum sp. CS-164 (ITS2 type B1), both free-living and in symbiosis, loses the capacity to infect the host following exposure to heat stress. This loss of infectivity is reversible, however, a longer exposure to heat stress increases the time taken for reversal. Under the same experimental conditions, the loss of infectivity was not observed in another strain Breviolum psygmophilum CCMP2459 (ITS2 type B2). Our results suggest that recovery from bleaching can be limited by the loss of symbiont infectivity following exposure to heat stress.

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