27 research outputs found

    C9orf72-mediated ALS and FTD: multiple pathways to disease

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    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

    Exercise-induced effects on a gym atmosphere

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    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
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