Browsing by Issue Date, starting with "2016-03-14"
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- Attitudes of the autism community to early autism researchPublication . Fletcher-Watson, S.; Apicella, F.; Auyeung, B.; Beranova, S.; Bonnet-Brilhault, F.; Canal-Bedia, R.; Charman, T.; Chericoni, N.; Conceição, I.C.; Davies, K.; Farroni, T.; Gomot, M.; Jones, E; Kaale, A.; Kapica, K.; Kawa, R.; Kylliäinen, A.; Larsen, K.; Lefort-Besnard, J.; Malvy, J.; Manso de Dios, S.; Markovska-Simoska, S.; Millo, I.; Miranda, N.; Pasco, G.; Pisula, E.; Raleva, M.; Rogé, B.; Salomone, E.; Schjolberg, S.; Tomalski, P.; Vicente, A.M.; Yirmiya, N.Investigation into the earliest signs of autism in infants has become a significant sub-field of autism research. This work invokes specific ethical concerns such as use of 'at-risk' language, communicating study findings to parents and the future perspective of enrolled infants when they reach adulthood. This study aimed to ground this research field in an understanding of the perspectives of members of the autism community. Following focus groups to identify topics, an online survey was distributed to autistic adults, parents of children with autism and practitioners in health and education settings across 11 European countries. Survey respondents (n = 2317) were positively disposed towards early autism research, and there was significant overlap in their priorities for the field and preferred language to describe infant research participants. However, there were also differences including overall less favourable endorsement of early autism research by autistic adults relative to other groups and a dislike of the phrase 'at-risk' to describe infant participants, in all groups except healthcare practitioners. The findings overall indicate that the autism community in Europe is supportive of early autism research. Researchers should endeavour to maintain this by continuing to take community perspectives into account.
- Risk assessment for public health from human interaction with ornamental watersPublication . Duarte, Aida; Rodrigues, João Carlos; Reis, Lúcia; Nogueira, Isabel; Carvalho, Patricia; Paulino, Sérgio; Sousa, Sara; Jordão, LuisaWater is essential to life; nevertheless ingestion of contaminated water could result in death caused by waterborne diseases such as cholera. Pathogens present in the water can cause diseases, other than those resulting from water ingestion, being registered an increase in the number of case reports in recent years. It is not clear if this increase is due either to a better case reporting system or to an increase in microorganism’s virulence. The generalized use of antibiotics in agriculture and animal farming contributed to their dissemination in the environment which promotes microorganism selection and emergence of resistant strains. This phenomenon can be enhanced by the ability of microorganism to persist within complex communities known as biofilms. In the present work we aim to characterize the microbial population present in ornamental waters and perform a risk assessment for public health resulting from human interaction with it.
- How mRNA translation is involved in modulating nonsense-mediated decay in transcripts with AUG-proximal nonsense mutationsPublication . Romão, LuísaNonsense-mediated mRNA decay (NMD) is a surveillance pathway that recognizes and selectively degrades mRNAs carrying premature termination codons (PTCs). In addition, several studies have also implicated NMD in the regulation of steady-state levels of physiological mRNAs, and examples of natural NMD targets are transcripts containing upstream short open reading frames or long 3’ untranslated regions. The strength of the NMD response appears to reflect multiple determinants on a target mRNA. We have reported that human mRNAs with a PTC in close proximity to the translation initiation codon (AUG-proximal PTC), and thus, with a short open reading frame, can substantially escape NMD. Our data support a model in which cytoplasmic poly(A)-binding protein 1 (PABPC1) is brought into close proximity with an AUG-proximal PTC via interactions with the translation initiation complexes. This proximity of PABPC1 to the AUG-proximal PTC allows PABPC1 to interact with eRF3 with a consequent enhancement of the release reaction and repression of the NMD response. Here, we provide strong evidence that the eIF3 is involved in delivering eIF4G-associated PABPC1 into the vicinity of the AUG-proximal PTC. In addition, we dissect the biochemical interactions of the eIF3 subunits in bridging PABPC1/eIF4G complex to the 40S ribosomal subunit. Together, our data provide a framework for understanding the mechanistic details of PTC definition and translation initiation.