Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

We examined the role of repeat expansions in the pathogenesis of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) by analyzing whole-genome sequence data from 2,442 FTD/ALS patients, 2,599 Lewy body dementia (LBD) patients, and 3,158 neurologically healthy subjects. Pathogenic expansions (range, 40-64 CAG repeats) in the huntingtin (HTT) gene were found in three (0.12%) patients diagnosed with pure FTD/ALS syndromes but were not present in the LBD or healthy cohorts. We replicated our findings in an independent collection of 3,674 FTD/ALS patients. Postmortem evaluations of two patients revealed the classical TDP-43 pathology of FTD/ALS, as well as huntingtin-positive, ubiquitin-positive aggregates in the frontal cortex. The neostriatal atrophy that pathologically defines Huntington's disease was absent in both cases. Our findings reveal an etiological relationship between HTT repeat expansions and FTD/ALS syndromes and indicate that genetic screening of FTD/ALS patients for HTT repeat expansions should be considered

Piriformospora indicaSebacinales and Their Biotechnological Applications /

XIII, 397 p. 107 illus., 64 illus. in color.onlin

Mitochondrial Sco proteins are involved in oxidative stress defense

Members of the evolutionary conserved Sco protein family have been intensively studied regarding their role in the assembly of the mitochondrial cytochrome c oxidase. However, experimental and structural data, specifically the presence of a thioredoxin-like fold, suggest that Sco proteins may also play a role in redox homeostasis.In our study, we addressed this putative function of Sco proteins using Saccharomyces cerevisiae as a model system. Like many eukaryotes, this yeast possesses two SCO homologs (SCO1 and SCO2). Mutants bearing a deletion of either of the two genes are not affected in their growth under oxidative stress. However, the concomitant deletion of the SOD1 gene encoding the superoxide dismutase 1 resulted in a distinct phenotype: double deletion strains lacking SCO1 or SCO2 and SOD1 are highly sensitive to oxidative stress and show dramatically increased ROS levels.The respiratory competent double deletion strain Δsco2Δsod1 paved the way to investigate the putative antioxidant function of SCO homologs apart from their role in respiration by complementation analysis. Sco homologs from Drosophila, Arabidopsis, human and two other yeast species were integrated into the genome of the double deletion mutant and the transformants were analyzed for their growth under oxidative stress. Interestingly, all homologs except for Kluyveromyces lactis K07152 and Arabidopsis thaliana HCC1 were able to complement the phenotype, indicating their role in oxidative stress defense. We further applied this complementation-based system to investigate whether pathogenic point mutations affect the putative antioxidant role of hSco2. Surprisingly, all of the mutant alleles failed to restore the ROS-sensitivity of the Δsco2Δsod1 strain.In conclusion, our data not only provide clear evidence for the function of Sco proteins in oxidative stress defense but also offer a valuable tool to investigate this role for other homologous proteins. Keywords: Sco proteins, Sod1, Saccharomyces cerevisiae, Oxidative stress response, ROS, Mitochondri

Ectomycorrhizal fungal communities in Nothofagus nervosa (Raulí): A comparison between domesticated and naturally established specimens in a native forest of Patagonia, Argentina

Due to its overexploitation during the past century, Nothofagus nervosa is currently included in conservation and domestication programs, in which ectomycorrhizas play an important role. We aimed to describe the abundance and diversity of ectomycorrhizal fungi (EcMF) in both domesticated and naturally established N. nervosa specimens, and to analyse the influence of age, seasonality and forest management on EcMF communities. The occurrence of arbuscular mycorrhizas (AM) and dark septate endophytes (DSE) was also investigated. Fungal diversity and taxonomic identification were assessed by morphotyping and subsequent ITS-rDNA sequencing. Plant age, seasonality and forest management influenced EcMF communities. Colonization rates were higher than 90 % in all the specimens, and were significantly higher in mature trees and in autumn. The highest EcMF richness and diversity values were registered in domesticated specimens and in autumn. Most EcMF were basidiomycetes, belonging mainly to the Cortinariaceae and Tricholomataceae. Arbuscular mycorrhizas were not detected, while DSE were present within N. nervosa roots. Our results and previously published reports showed that some EcMF are capable of colonizing different Nothofagus species. In addition, the EcMF described in natural ecosystems are different from those colonizing N. nervosa during its cultivation in the nursery. These results improve our understanding of key factors affecting EcMF communities associated with Nothofagus in native forests and nurseries (age, season, forest management, cultivation techniques), and this information is relevant for improving domestication programs.Fil: Fernández, Natalia Verónica. Universidad Nacional del Comahue. Centro Regional Universidad de Bariloche. Departamento de Biologia. Laboratorio de Microbiologia Aplicada y Biotecnologia; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Patagonia Norte. Instituto de Investigación en Biodiversidad y Medioambiente; ArgentinaFil: Marchelli, Paula. Instituto Nacional de Tecnología Agropecuaria. Centro Regional Patagonia Norte. Estación Experimental Agropecuaria San Carlos de Bariloche; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas; ArgentinaFil: Gherghel, Felicia. Philipps Universität Marburg; AlemaniaFil: Kost, Gerhard. Philipps Universität Marburg; AlemaniaFil: Fontenla, Sonia. Universidad Nacional del Comahue. Centro Regional Universidad de Bariloche. Departamento de Biologia. Laboratorio de Microbiologia Aplicada y Biotecnologia; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Patagonia Norte. Instituto de Investigación en Biodiversidad y Medioambiente; Argentin

Former Land Use and Host Genotype Influence the Mycorrhizal Colonization of Poplar Roots

The present paper analyses the community structure of ectomycorrhiza (ECM) and arbuscular mycorrhiza (AM) fungi associated with seven different poplar clone types growing in a patch system on soil from four different former land use types, originating from spruce forest, poplar stand, grassland and cornfield. We determined the extent to which ECM and AM play a role on the studied factors (genotype, former land use type and host growth). The diversity of ECM and AM fungal communities was estimated by morphological and molecular analyses of the 18S and ITS of the rDNA genes. Fifteen ECM fungal taxa and four AM groups were distinguished in the roots of the poplars grown for 18 months on soil originating from the respective land use types. The poplar clones showed significantly different rates of shoot length and AM colonization, especially concerning the occurrence of Glomus intraradices and Scutellospora sp. Populus deltoides had significantly higher Scutellospora sp. abundance. Although ECM abundance and diversity was high, no significant differences between the different land use types was found. However, some ECM fungi like Paxillus involutus, Laccaria proxima and Laccaria tortilis showed significant preferences for specific land use types. Our findings suggest that both factors, former land use type and poplar genotype, are important determinants of mycorrhizal colonization of the host plants

Out of Asia: Biogeography of fungal populations reveals Asian origin of diversification of the Laccaria amethystina complex, and two new species of violet Laccaria

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