Terrestrial impact structures as geoheritage: an assessment method of their scientific value and its application to Brazil

Terrestrial impact structures are geological and geomorphological features with particular importance to understand the history and evolution of the planet. Impact structures are scattered around the world but in many countries these features are under threat, essentially due to anthropic factors. Impact structures with higher scienti c value should be considered as geological heritage and, consequently, be subjected to geoconservation strategies. In order to select the most important impact structures to be properly conserved and managed, this paper proposes a quantitative assessment method of the scienti c value of these structures. The eight Brazilian impact structures were used to test this method that has the potential to be applied to any geological context in any country. The structures known as Araguainha Dome-MT and Serra da Cangalha-TO reached a higher scienti c value, which justi es the need to develop geoconservation strategies and a proper management.The Conselho Nacional de Pesquisa e Desenvolvimento (CNPq / National Council for Research and Development) and the Programa Ciências sem Fronteiras / Science Without Borders Programme are acknowledged for the support of the postdoctoral grant No 233209/2013-1 of the 1st author. The work was co-funded by the European Union through the European Regional Development Fund, based on COMPETE 2020 (Programa Operacional da Competitividade e Internacionalização), project ICT (UID/ GEO/04683/2013) with reference POCI-01-0145- FEDER-007690 and Portuguese funds provided by Fundação para a Ciência e Tecnologia.info:eu-repo/semantics/publishedVersio

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model

Hereditary spastic paraplegias (HSP) are rare, inherited neurodegenerative or neurodevelopmental disorders that mainly present with lower limb spasticity and muscle weakness due to motor neuron dysfunction. Whole genome sequencing identified bi-allelic truncating variants in AMFR, encoding a RING-H2 finger E3 ubiquitin ligase anchored at the membrane of the endoplasmic reticulum (ER), in two previously genetically unexplained HSP-affected siblings. Subsequently, international collaboration recognized additional HSP-affected individuals with similar bi-allelic truncating AMFR variants, resulting in a cohort of 20 individuals from 8 unrelated, consanguineous families. Variants segregated with a phenotype of mainly pure but also complex HSP consisting of global developmental delay, mild intellectual disability, motor dysfunction, and progressive spasticity. Patient-derived fibroblasts, neural stem cells (NSCs), and in vivo zebrafish modeling were used to investigate pathomechanisms, including initial preclinical therapy assessment. The absence of AMFR disturbs lipid homeostasis, causing lipid droplet accumulation in NSCs and patient-derived fibroblasts which is rescued upon AMFR re-expression. Electron microscopy indicates ER morphology alterations in the absence of AMFR. Similar findings are seen in amfra-/- zebrafish larvae, in addition to altered touch-evoked escape response and defects in motor neuron branching, phenocopying the HSP observed in patients. Interestingly, administration of FDA-approved statins improves touch-evoked escape response and motor neuron branching defects in amfra-/- zebrafish larvae, suggesting potential therapeutic implications. Our genetic and functional studies identify bi-allelic truncating variants in AMFR as a cause of a novel autosomal recessive HSP by altering lipid metabolism, which may potentially be therapeutically modulated using precision medicine with statins

Response of rice inbred lines to cadmium exposure

The response of a group of rice (Oryza sativa L.) genotypes to cadmium (Cd) exposure was tested using root growth as a parameter over the duration of the treatment. Three distinct response patterns were identified: a significant initial (0.01 mM) dosage effect, which was maintained with the increase of CdCl2 concentration to 1 mM; a significant initial effect, which was intensified with the increase of CdCl2 concentration, resistant to the CdCl2 concentration tested shown by a group of varieties. Significant interactions between dosage and varieties were observed. Enzymatic assays for catalase and glutathione reductase were also carried out in plants exposed to CdCl2, Similar response patterns for both enzymes were observed. The activities of catalase and glutathione reductase in leaves and roots were increased, and in the case of glutathione reductase in roots, such an increase was highly significant, suggesting that the synthesis of reduced glutathione may be stimulated for subsequent synthesis of phyto-chelatins or to dismutate the reactive oxygen species produced by the induced Cd stress.25592794