Mutational analysis of the <Emphasis Type="Italic">GLA</Emphasis> gene in Mexican families with Fabry disease

Fabry disease (FD) is a lysosomal storage disorder, which develops due to a deficiency in the hydrolytic enzyme, α-galactosidase A (α-Gal A). Alpha-Gal A hydrolyzes glycosphingolipid globotriaosylceramide (Gb3), and an α-Gal A deficiency leads to Gb3 accumulation in tissues and cells in the body. This pathology is likely to involve multiple systems, but it is generally considered to affect primarily vascular endothelium. In this study, we investigated mutations in the GLA gene, which encodes α-Gal A, in Mexican families with FD. We included seven probands with FD that carried known mutations. We analysed pedigrees of the probands, and performed molecular screening in 65 relatives with the potential of carrying a GLA mutation. Five mutations (P40S, IVS4 ⁺⁴, G328V, R363H, R404del) were detected in seven unrelated Mexican families with the classic FD phenotype. Of the 65 relatives examined, 42 (64.6%) had a GLA gene mutation. In summary, among seven Mexican probands with FD, 65 relatives were at risk of carrying a known GLA mutation, and molecular screening identified 42 individuals with the mutation. Thus, our findings showed that it is important to perform molecular analysis in families with FD to detect mutations and to provide accurate diagnoses for individuals that could be affected.     

Are behavioural traits in prey sensitive to the risk imposed by predatory fish?

1. Behavioural differences among prey species may result from evolutionary adaptations that facilitate coexistence with different predators and influence vulnerability to predators. It has been hypothesised that prey species modify their behaviour in relation to the risk posed by particular predators. 2. We examined the relationship between anti‐predator behaviour and predation risk in five species of larval odonates in combination with three predatory fish species (perch, gudgeon and rudd) that differ in foraging behaviour. The odonates, Platycnemis pennipes, Coenagrion puella, Lestes sponsa, Sympetrum striolatum and Libellula depressa, differ with regard to their life cycle and habitat, including water depth, occurrence in temporary ponds and co‐existence with fish. 3. The odonate species differed in their response to fish: (i) Two species showed a flexible response. Larval C. puella reduced activity in the presence of fish, regardless of species, whereas L. depressa altered their activity only in the presence of gudgeon. (ii) Independent of fish species, all odonates except L. depressa exhibited spatial avoidance of fish. This was interpreted as a more general anti‐predator response. (iii) In some cases the odonates showed no response to predators and their behaviour was thus independent of predation risk. 4. Our results confirm that all odonates responded to the presence of at least some predatory fish, and that some odonate species discriminated between fish species. However, we found no significant correlation between behavioural modifications and predation risk, indicating that anti‐predator responses and predation risk depend on the particular predator and the species being preyed on.     

Sexual size dimorphism and the integration of phenotypically plastic traits

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Biosynthetic Changes of Myosin Heavy Subunit during Myogenesis in Culture

In primary culture of chick embryo muscle cells myosin synthesis is detected in mononucleated cells and increases at the onset of fusion with a maximal increment of 20-fold per plate in differentiated myotube. The possibility that the myosin synthetized by duplicating myoblast could be different from that present in post-mitotic myoblast and myotube was evaluated by investigating the regulation of its synthesis and the turnover of the molecule. Following Actinomycin D treatment (0.05 μg/ml, 8 h), myosin synthesis is partially affected (about 50% inhibition) in pre-fusion myoblast while the synthesis is more sensitive to the drug at the onset of fusion (80% inhibition).
With the progress of the differentiative stage the half-life of the molecule increases from 30 h in duplicating myoblasts to 200 h in fibers. The half-life of myosin synthetized by duplicating myoblasts in the explanted embryonic muscle, is 12 h.
These data show different features of myosin heavy chains related to specific stages of differentiation and suggest the possibility that modulative changes of the molecule could induce its functional maturation during myogenesis.     

Mitochondrial DNA distributions indicate colony propagation by single matri-lineages in the social spider Stegodyphus dumicola (Eresidae)

Colony-dwelling social spiders of the genus Stegodyphus are characterized by high colony turnover, within-colony mating, inbreeding and skewed sex ratios. These phenomena may purge genetic variation from the entire species gene pool. Social Stegodyphus have previously been discussed as ecologically unstable and evolutionary dead ends. We investigated the distribution and age (sequence divergence) of mitochondrial DNA variation for inferences of colony propagation, colony discreteness and maintenance of genetic variation in the social spider S. dumicola . In contrast to our expectations, we found abundant mtDNA variation, consisting of 15 haplotypes belonging to four haplotype lineages. Lineage divergence ranged between 2.75 and 6% for the gene ND1. Nearly all colonies (86%) were monomorphic and even neighbour colonies showed fixed differences. Simulations show that genetic drift in multifounder colonies cannot alone explain monomorphism within colonies. Haplotypes in polymorphic colonies and from neighbouring colonies were always genealogically similar. Monomorphism and the genealogical pattern among colonies suggest 'clonal' colony propagation involving single matrilineages. The divergence of haplotype lineages and distribution of haplotypes imply that colony turnover is not high enough to purge genetic variation in the species gene pool, and that S. dumicola as a species is old enough to question the instability (in ecological time) of a social spider.  © 2002 The Linnean Society of London, Biological Journal of the Linnean Society , 2002, 76 , 591–600.     

Ontogenetic changes in the association between antipredator responses and growth variables

Abstract.  1. An organism's growth parameters are expected to depend on environmental constraints, such as predation risk and food supply. However, antipredator responses, food intake, and thus growth of an animal may be mediated by behavioural traits, which are likely to differ among developmental stages. In this study, it was investigated how the relationship between growth and behavioural antipredator responses changes during ontogeny in the time-constrained dragonfly species Libellula depressa , and which factors influenced specific behavioural decisions at different points in ontogeny.
2. The results revealed that behavioural strategies differed between larval developmental sages, depending on associations between larval growth, food supply, and predation risk. Early in ontogeny, faster development was correlated with high larval activity and high food supply. This resulted in high activity levels under high food conditions irrespectively of predator presence, and under low food supply in predator absence only. In the intermediate stage of development, all larvae displayed a high activity level, which was correlated in general with fast development. However, growth later in ontogeny was not only influenced by the activity level, but also by predator presence and food supply, with larvae reared under high food supply and/or in presence of predators attaining a higher final mass. Thus, not only the way in which larval growth parameters and behaviour are related changed during development, but also whether the factors influenced larval growth and behaviour. Once the larvae reached the ultimate stage of development, in which they overwinter, behavioural patterns observed were consistent with model predictions.
3. It is advocated that behavioural plasticity of prey organisms in different developmental stages should be analysed in the context of associated growth variables.     

Bioactive factors secreted from mesenchymal stromal cells protect the intestines from experimental colitis in a three-dimensional culture

Background aims

Although mesenchymal stromal cells (MSCs) have shown therapeutic potential in intestinal tissue repair, controversy concerning their short survival and poor biodistribution in recipient tissues still remains. Therefore, we investigated the paracrine role of MSC in three-dimensional culture of colon with experimental colitis.