University of South Australia

About: University of South Australia is a education organization based out in Adelaide, South Australia, Australia. It is known for research contribution in the topics: Population & Context (language use). The organization has 10086 authors who have published 32587 publications receiving 913683 citations. The organization is also known as: The University of South Australia & UniSA.

Mutations in UPF3B , a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

Abstract: Nonsense-mediated mRNA decay (NMD) is of universal biological significance. It has emerged as an important global RNA, DNA and translation regulatory pathway. By systematically sequencing 737 genes (annotated in the Vertebrate Genome Annotation database) on the human X chromosome in 250 families with X-linked mental retardation, we identified mutations in the UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B) leading to protein truncations in three families: two with the Lujan-Fryns phenotype and one with the FG phenotype. We also identified a missense mutation in another family with nonsyndromic mental retardation. Three mutations lead to the introduction of a premature termination codon and subsequent NMD of mutant UPF3B mRNA. Protein blot analysis using lymphoblastoid cell lines from affected individuals showed an absence of the UPF3B protein in two families. The UPF3B protein is an important component of the NMD surveillance machinery. Our results directly implicate abnormalities of NMD in human disease and suggest at least partial redundancy of NMD pathways.

An update on the rotenone models of Parkinson's disease: their ability to reproduce the features of clinical disease and model gene-environment interactions.

Abstract: Parkinson's disease (PD) is the second most common neurodegenerative disorder that is characterized by two major neuropathological hallmarks: the degeneration of dopaminergic neurons in the substantia nigra (SN) and the presence of Lewy bodies in the surviving SN neurons, as well as other regions of the central and peripheral nervous system. Animal models have been invaluable tools for investigating the underlying mechanisms of the pathogenesis of PD and testing new potential symptomatic, neuroprotective and neurorestorative therapies. However, the usefulness of these models is dependent on how precisely they replicate the features of clinical PD with some studies now employing combined gene-environment models to replicate more of the affected pathways. The rotenone model of PD has become of great interest following the seminal paper by the Greenamyre group in 2000 (Betarbet et al., 2000). This paper reported for the first time that systemic rotenone was able to reproduce the two pathological hallmarks of PD as well as certain parkinsonian motor deficits. Since 2000, many research groups have actively used the rotenone model worldwide. This paper will review rotenone models, focusing upon their ability to reproduce the two pathological hallmarks of PD, motor deficits, extranigral pathology and non-motor symptoms. We will also summarize the recent advances in neuroprotective therapies, focusing on those that investigated non-motor symptoms and review rotenone models used in combination with PD genetic models to investigate gene-environment interactions.

Sleep duration or bedtime? Exploring the association between sleep timing behaviour, diet and BMI in children and adolescents

Abstract: To determine whether sleep timing behaviour is associated with energy intake and diet quality in children and adolescents. Cross-sectional analysis of nationally representative survey data. A total of 2200 participants of the 2007 Australian National Children’s Nutrition and Physical Activity Survey aged 9–16 years with 2 days of food intake data, 4 days of use of time data and complete anthropometry. Participants were grouped into one of four sleep–wake behaviour categories: early bed–early rise (EE); early bed–late rise (EL); late bed–early rise (LE) and late bed–late rise (LL). The four categories were compared for body mass index (BMI) z-score, energy intake and diet quality assessed using the Dietary Guideline Index for Children and Adolescents. Analyses were adjusted for survey design, sociodemographic characteristics, sleep duration and physical activity level (PAL). In adjusted multivariate regression models with sleep timing behaviour group as the independent variable, the ‘LL’ category compared with the ‘EE’ category had a higher BMI z-score (β=0.20, 95% confidence interval (CI) 0.06 to 0.34, P=0.007), and lower diet quality (β=−4.0, 95% CI −5.7 to −2.3, P<0.001). Children and adolescents who went to bed late also had a higher intake of extra foods (that is, energy-dense, nutrient-poor foods) while those whom went to bed early consumed more fruit and vegetables. Energy intake was associated with sleep duration (β=−4.5 kJ, 95% CI −6.7 to −2.4, P<0.001), but not sleep timing behaviour. Late bedtimes and late wake up times are associated with poorer diet quality, independent of sleep duration, PAL and child and sociodemographic characteristics.