The personal experience of parenting a child with Juvenile Huntington’s Disease: perceptions across Europe

The study reported here presents a detailed description of what it is like to parent a child with juvenile Huntington’s disease in families across four European countries. Its primary aim was to develop and extend findings from a previous UK study. The study recruited parents from four European countries: Holland, Italy, Poland and Sweden,. A secondary aim was to see the extent to which the findings from the UK study were repeated across Europe and the degree of commonality or divergence across the different countries. Fourteen parents who were the primary caregiver took part in a semistructured interview. These were analyzed using an established qualitative methodology, interpretative phenomenological analysis. Five analytic themes were derived from the analysis: the early signs of something wrong; parental understanding of juvenile Huntington’s disease; living with the disease; other people’s knowledge and understanding; and need for support. These are discussed in light of the considerable convergence between the experiences of families in the United Kingdom and elsewhere in Europe

A Modifier Screen for Bazooka/PAR-3 Interacting Genes in the Drosophila Embryo Epithelium

The development and homeostasis of multicellular organisms depends on sheets of epithelial cells. Bazooka (Baz; PAR-3) localizes to the apical circumference of epithelial cells and is a key hub in the protein interaction network regulating epithelial structure. We sought to identify additional proteins that function with Baz to regulate epithelial structure in the Drosophila embryo.The baz zygotic mutant cuticle phenotype could be dominantly enhanced by loss of known interaction partners. To identify additional enhancers, we screened molecularly defined chromosome 2 and 3 deficiencies. 37 deficiencies acted as strong dominant enhancers. Using deficiency mapping, bioinformatics, and available single gene mutations, we identified 17 interacting genes encoding known and predicted polarity, cytoskeletal, transmembrane, trafficking and signaling proteins. For each gene, their loss of function enhanced adherens junction defects in zygotic baz mutants during early embryogenesis. To further evaluate involvement in epithelial polarity, we generated GFP fusion proteins for 15 of the genes which had not been found to localize to the apical domain previously. We found that GFP fusion proteins for Drosophila ASAP, Arf79F, CG11210, Septin 5 and Sds22 could be recruited to the apical circumference of epithelial cells. Nine of the other proteins showed various intracellular distributions, and one was not detected.Our enhancer screen identified 17 genes that function with Baz to regulate epithelial structure in the Drosophila embryo. Our secondary localization screen indicated that some of the proteins may affect epithelial cell polarity by acting at the apical cell cortex while others may act through intracellular processes. For 13 of the 17 genes, this is the first report of a link to baz or the regulation of epithelial structure

Map view restoration of Aegean–West Anatolian accretion and extension since the Eocene

The Aegean region (Greece, western Turkey) is one of the best studied continental extensional provinces. Here, we provide the first detailed kinematic restoration of the Aegean region since 35 Ma. The region consists of stacked upper crustal slices (nappes) that reflect a complex paleogeography. These were decoupled from the subducting African-Adriatic lithospheric slab. Especially since !25 Ma, extensional detachments cut the nappe stack and exhumed its metamorphosed portions in metamorphic core complexes. We reconstruct up to 400 km of trench-perpendicular (NE-SW) extension in two stages. From 25 to 15 Ma, the Aegean forearc rotated clockwise relative to the Moesian platform around Euler poles in northern Greece, accommodated by extensional detachments in the north and an inferred transfer fault SE of the Menderes massif. The majority of extension occurred after 15 Ma (up to 290 km) by opposite rotations of the western and eastern parts of the region. Simultaneously, the Aegean region underwent up to 650 km of post-25 Ma trench-parallel extension leading to dramatic crustal thinning on Crete. We restore a detachment configuration with the Mid-Cycladic Lineament representing a detachment that accommodated trench-parallel extension in the central Aegean region. Finally, we demonstrate that the Sakarya zone and Cretaceous ophiolites of Turkey cannot be traced far into the Aegean region and are likely bounded by a pre-35 Ma N-S fault zone. This fault became reactivated since 25 Ma as an extensional detachment located west of Lesbos Island. The paleogeographic units south of the Izmir-Ankara-Sava suture, however, can be correlated from Greece to Turkey