Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease

Fabry disease (FD) is a hereditary metabolic disorder caused by the partial or total inactivation of α-galactosidase A (α-gal A), a lysosomal hydrolase. This inactivation is responsible for the accumulation of undegraded glycosphingolipids in the lysosomes with subsequent cellular and microvascular dysfunction. Fabry is considered a rare disease, with an incidence of 1:40,000; however, there are good reasons to believe that it is often seen but rarely diagnosed. To date, more than 600 mutations have been identified in human GLA gene that are responsible for FD.     

Potential use of new diphenylurea derivatives in micropropagation of Capparis spinosa L.

A protocol for in vitro multiplication of caper (Capparis spinosa L. subsp. rupestris) from nodal segments collected from mature plants was developed. For shoot multiplication, one auxin (indol-3-butyric acid, IBA) and cytokinins of two different classes were used: the N6-substituted adenine derivatives 6-benzylamino purine (BAP), and the two synthetic phenylurea derivatives N-phenyl-N′-benzothiazol-6-ylurea (PBU) and N-phenyl-N′-(1,2,3-thidiazol-5-yl) urea (thidiazuron, TDZ). Maximum shoot production was achieved from explants cultured with the adeninic cytokinin BAP (4 μM) and the auxin IBA (0.5 μM). New shoots longer than 1 cm were used for rooting. To induce root formation, three auxins [indole-3-butyric acid (IBA), 1-naphthaleneacetic acid (NAA) and 3-Indoleacetic acid (IAA)] and two synthetic phenylurea derivatives [N,N-bis-(2,3-methylenedioxyphenyl)urea (2,3-MDPU) and N,N-bis-(3,4-methylenedioxyphenyl)urea (3,4-MDPU)] were used. All rooting compounds tested stimulated the formation of roots. However, the best result in terms of a high percentage of rooted shoots having a well-developed root system with many lateral roots was achieved with the synthetic phenylurea 2,3-MDPU (1 μM) with 93.7% of well rooted plantlets. About 80% of rooted plantlets were successfully acclimatized and transferred to the greenhouse.     

The specific features of the developing T cell compartment of the neonatal lung are a determinant of respiratory syncytial virus immunopathogenesis

The human respiratory syncytial virus (RSV) is a major cause of severe lower respiratory tract infections in infants, possibly due to the properties of the immature neonatal pulmonary immune system. Using the newborn lamb, a classical model of human lung development and a translational model of RSV infection, we aimed to explore the role of cell-mediated immunity in RSV disease during early life. Remarkably, in healthy conditions, the developing T cell compartment of the neonatal lung showed major differences to that seen in the mature adult lung. The most striking observation being a high baseline frequency of bronchoalveolar IL-4-producing CD4⁺ and CD8⁺ T cells, which declined progressively over developmental age. RSV infection exacerbated this pro-type 2 environment in the bronchoalveolar space, rather than inducing a type 2 response per se. Moreover, regulatory T cell suppressive functions occurred very early to dampen this pro-type 2 environment, rather than shutting them down afterwards, while γδ T cells dropped and failed to produce IL-17. Importantly, RSV disease severity was related to the magnitude of those unconventional bronchoalveolar T cell responses. These findings provide novel insights in the mechanisms of RSV immunopathogenesis in early life, and constitute a major step for the understanding of RSV disease severity.     

Patterns on the Face: The Eyebrow Flash in Crosscultural Comparison

255 instances of “brow raise” filmed in three cultures in unstaged social interactions were analyzed on different levels using the “Facial Action Coding System” (FACS, Ekman & Friesen 1978). Contraction and slackening of the M. frontalis, pars medialis et lateralis are involved, and show temporal constancy in all three cultures, creating a pattern with a typical movement configuration. This configuration is discussed as a universal prerequisite for stimulus generation perception. The total time of contraction varies with contextual features, and brow raise in openings is longer than during interactions. An analysis of co-occurrence of other facial movements showed universal patterns occurring in all three cultures. Brow raise is most often accompanied by a smile. The antithesis of this “eyebrow flash”, both in neuromuscular and semantic aspect, is brought about by the action of the M. corrugator supercilii, lowering the brows and pulling them together. In addition, a set of functional patterns could be identified in all three cultures, ranging from a factual “yes” to a “yes to social contact”. Thus, the eyebrow flash can be interpreted as a “social marking-tool” which emphasizes the meaning of other facial cues, head movements and even verbal statements.     

Resistance ofUrtica dioica to mycorrhizal colonization: a possible involvement ofUrtica dioica agglutinin

Roots of stinging nettle (Urtica dioica L.) were sampled at different sites around Basel (Switzerland) and examined under the microscope. They were completely devoid of mycorrhizal structures. Similarly, stinging nettle plants grown in the greenhouse in the presence of the arbuscular mycorrhizal fungusGlomus mosseae did not show any signs of mycorrhiza formation. Spread ofG. mosseae through the rhizosphere of stinging nettle plants was inhibited, and application of extracts of stinging nettle roots and rhizomes to hyphal tips ofG. mosseae reduced hyphal growth.Urtica dioica agglutinin, an antifungal protein present in the rhizomes of stinging nettle, inhibited hyphal growth in a similar way as the crude root extract. The possibility thatUrtica dioica agglutinin is at least partially responsible for the inability of stinging nettle to form the arbuscular mycorrhizal symbiosis withG. mosseae is discussed.     

Heat shock protein HSP60 can alleviate the phenotype of mitochondrial RNA-deficient temperature-sensitive mna2 pet mutants

mna2, which belongs to the class I temperature-sensitive pet mutants that lose mitochondrial (mt)RNA at restrictive temperature, was shown by complementation and sequence determination to correspond to the gene coding for HSP60. Both mna2-1 and mna2-2, the two available alleles of mna2, have conservative single amino acid substitutions in the HSP60 gene. Valine substitutes for an alanine (position 47) in mna2-1, and an isoleucine substitutes for a valine (position 77) in mna2-2. These substitutions result in defects in respiration and in steady-state mtRNA accumulation. Wild-type hsp60 alleviates the mtRNA phenotype completely, while partially relieving the respiratory deficiency.     

Paraquat resistance and starvation conditions in the selection for longevity extremes in drosophila melanogaster populations previously selected for long and short developmental period

This paper analyzes the interaction between resistance to free radicals, development under starvation conditions, sex, and its consequences to the lifespan of Drosophila mela-nogaster populations selected for developmental time and longevity. Our data suggest that the interaction between these physiological and environmental parameters is modulated largely by the pre-imaginal developmental time, since the response to selection for longevity extremes depends strongly on the previous selection for developmental time extremes.