16 research outputs found
C9orf72-mediated ALS and FTD: multiple pathways to disease
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized our understanding of these diseases. Substantial headway has been made in characterizing C9orf72-mediated disease and unravelling its underlying aetiopathogenesis. Three main disease mechanisms have been proposed: loss of function of the C9orf72 protein and toxic gain of function from C9orf72 repeat RNA or from dipeptide repeat proteins produced by repeat-associated non-ATG translation. Several downstream processes across a range of cellular functions have also been implicated. In this article, we review the pathological and mechanistic features of C9orf72-associated FTD and ALS (collectively termed C9FTD/ALS), the model systems used to study these conditions, and the probable initiators of downstream disease mechanisms. We suggest that a combination of upstream mechanisms involving both loss and gain of function and downstream cellular pathways involving both cell-autonomous and non-cell-autonomous effects contributes to disease progression
Invertebrate fossils from cave sediments: a new proxy for pre-Quaternary paleoenvironments
Five samples of clastic sediments from interior cave facies taken in three Slovenian relic caves (Trhlovca, Račiška pečina, and a cave in Črnotiče Quarry, Classical Karst, SW Slovenia) provided invertebrate fossil remains. Most of them belong to Oribatida but sparse individuals of Cladocera and insects were also identified. They represent the first pre-Quaternary invertebrate fossils found in sediments of continental temperate climate. The Pliocene/Pleistocene age of the sediments was determined by paleomagnetic dating chronologically calibrated by micromammal biostratigraphy. Invertebrate fossils could be validated as new proxy for the study of cave sediments due to their suitability for ecological and paleogeographic correlations in caves and outside the caves. They also bring additional information about cave formation and karst hydraulic regime in the area. Although the number of remains was very low, it is evidence that climatic conditions in caves allow a better preservation of fossil remains of some groups as compared to most of the surface habitats. This may open a new direction in the study of cave sediments
Exercise-induced effects on a gym atmosphere
We report results of analysis of a month-long measurement of indoor air and environment quality parameters in one gym during sporting activities such as football, basketball, volleyball, badminton, boxing, and fitness. We have determined an average single person's contribution to the increase of temperature, humidity, and dust concentration in the gym air volume of 12500 m3: during 90-min exercise performed at an average heart rate of 143 ± 10 bpm, a single person evaporated 0.94 kg of water into the air by sweating, contributed 0.03 K to the air temperature rise and added 1.5 μg/m3 and 5 ng/m3 to the indoor concentration of inhalable particles (PM10) and Ca concentration, respectively. As the breathing at the observed exercise intensity was about three times faster with respect to the resting condition and as the exercise-induced PM10 concentration was about two times larger than outdoors, a sportsman in the gym would receive about a sixfold higher dose of PM10 inside than he/she would have received at rest outside.Fil: Žitnik, M.. Institute Jožef Stefan; Eslovenia. University of Ljubljana. Faculty of Mathematics and Physics; EsloveniaFil: Bučar, K.. Institute Jožef Stefan; EsloveniaFil: Hiti, B.. Institute Jožef Stefan; EsloveniaFil: Barba, Ž.. Institute Jožef Stefan; EsloveniaFil: Rupnik, Z.. Institute Jožef Stefan; EsloveniaFil: Založnik, A.. Institute Jožef Stefan; EsloveniaFil: Žitnik, E.. University of Ljubljana. Faculty of Medicine; EsloveniaFil: Rodriguez, Luis Miguel. Comisión Nacional de Energía Atómica. Centro Atómico Bariloche; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Patagonia Norte; ArgentinaFil: Mihevc, I.. University of Ljubljana. Faculty of Electrical Engineering; EsloveniaFil: Žibert, J.. Univerza Na Primorskem.; Esloveni