106 research outputs found
Aberrant brain network connectivity in pre-symptomatic and manifest Huntington's disease: a systematic review
Resting-state functional magnetic resonance imaging (rs-fMRI) has the potential to shed light on the pathophysiological mechanisms of Huntington's disease (HD), paving the way to new therapeutic interventions. A systematic review of the literature was conducted in three online databases according to PRISMA guidelines, using keywords for HD, functional connectivity, and rs-fMRI. We included studies investigating connectivity in pre-symptomatic (pre-HD) and manifest HD gene carriers compared to healthy controls, implementing seed-based connectivity, independent component analysis, regional property and graph analysis approaches. Visual network showed reduced connectivity in manifest HD, while network/areas underpinning motor functions were consistently altered in both manifest HD and pre-HD, showing disease stage-dependent changes. Cognitive networks underlying executive and attentional functions showed divergent anterior-posterior alterations, reflecting possible compensatory mechanisms. The involvement of these networks in pre-HD is still unclear. In conclusion, aberrant connectivity of the sensory-motor network is observed in the early stage of HD while, as pathology spreads, other networks might be affected, such as the visual and executive/attentional networks. Moreover, sensory-motor and executive networks exhibit hyper- and hypo-connectivity patterns following different spatiotemporal trajectories. These findings could help to implement future huntingtin-lowering interventions
Maternal iron deficiency perturbs embryonic cardiovascular development in mice.
Congenital heart disease (CHD) is the most common class of human birth defects, with a prevalence of 0.9% of births. However, two-thirds of cases have an unknown cause, and many of these are thought to be caused by in utero exposure to environmental teratogens. Here we identify a potential teratogen causing CHD in mice: maternal iron deficiency (ID). We show that maternal ID in mice causes severe cardiovascular defects in the offspring. These defects likely arise from increased retinoic acid signalling in ID embryos. The defects can be prevented by iron administration in early pregnancy. It has also been proposed that teratogen exposure may potentiate the effects of genetic predisposition to CHD through gene-environment interaction. Here we show that maternal ID increases the severity of heart and craniofacial defects in a mouse model of Down syndrome. It will be important to understand if the effects of maternal ID seen here in mice may have clinical implications for women
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Overview of Tabletop X-ray Laser Development at the Lawrence Livermore National Laboratory
It is almost a decade since the first tabletop x-ray laser experiments were implemented at the Lawrence Livermore National Laboratory (LLNL). The decision to pursue the picosecond-driven schemes at LLNL was largely based around the early demonstration of the tabletop Ne-like Ti x-ray laser at the Max Born Institute (MBI) as well as the established robustness of collisional excitation schemes. These picosecond x-ray lasers have been a strong growth area for x-ray laser research. Rapid progress in source development and characterization has achieved ultrahigh peak brightness rivaling the previous activities on the larger facilities. Various picosecond soft-x-ray based applications have benefited from the increased repetition rates. We will describe the activities at LLNL in this area
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