MODY 2: Mutation identification and molecular ancestry in a Brazilian family

Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of genetic diseases characterized by a primary defect in insulin secretion and hyperglycemia, non-ketotic disease, monogenic autosomal dominant mode of inheritance, age at onset less than 25 years, and lack of auto-antibodies. It accounts for 2–5% of all cases of non-type 1 diabetes. MODY subtype 2 is caused by mutations in the glucokinase (GCK) gene. In this study, we sequenced the GCK gene of two volunteers with clinical diagnosis for MODY2 and we were able to identify four mutations including one for a premature stop codon (c.76C>T). Based on these results, we have developed a specific PCR-RFLP assay to detect this mutation and tested 122 related volunteers from the same family. This mutation in the GCK gene was detected in 21 additional subjects who also had the clinical features of this genetic disease. In conclusion, we identified new GCK gene mutations in a Brazilian family of Italian descendance, with one due to a premature stop codon located in the second exon of the gene. We also developed a specific assay that is fast, cheap and reliable to detect this mutation. Finally, we built a molecular ancestry model based on our results for the migration of individuals carrying this genetic mutation from Northern Italy to Brazil.     

The effect of a large-scale irrigation scheme on the fish community structure and integrity of a subtropical river system in South Africa

Large scale irrigation schemes are vitally important for food security in developing countries. This is especially relevant in subtropical countries where there is pressure on their water resources. However, the potential impacts on the fish communities of the rivers associated with these irrigation systems are extensive and potentially devastating. Therefore, the aim of the study was to evaluate the impact of the Vaalharts Irrigation Scheme (VHIS) on the fish community of two rivers (Harts and Vaal rivers) in the subtropical region of South Africa. The fish community was assessed during a three year period from 2007 to 2009 together with environmental and habitat quality parameters. A multivariate approach together with a local biotic index was used to determine the present ecological state and the environmental drivers responsible for the fish community structure. The results indicated that the fish community was in a largely natural state at the start of the VHIS and increasingly became modified due to various environmental parameters being affected by the irrigation scheme. Annual variation in the fish community structures was high while nitrate, zinc and sulphates corresponded with changes in the fish community. The outcome of the study highlighted that a lack of long term monitoring of fish community structures together with environmental and habitat parameters are a major challenge in many developing countries that can potentially affect management of irrigation schemes and the fish communities associated with the aquatic ecosystems.     

The Isolation and Characterization of Glycosylated Phosphoproteins from Herring Fish Bones

Past studies of bone extracellular matrix phosphoproteins such as osteopontin and bone sialoprotein have yielded important biological information regarding their role in calcification and the regulation of cellular activity. Most of these studies have been limited to proteins extracted from mammalian and avian vertebrates and nonvertebrates. The present work describes the isolation and purification of two major highly glycosylated and phosphorylated extracellular matrix proteins of 70 and 22 kDa from herring fish bones. The 70-kDa phosphoprotein has some characteristics of osteopontin with respect to amino acid composition and susceptibility to thrombin cleavage. Unlike osteopontin, however, it was found to contain high levels of sialic acid similar to bone sialoprotein. The 22-kDa protein has very different properties such as very high content of phosphoserine (∼270 Ser(P) residues/1000 amino acid residues), Ala, and Asx residues. The N-terminal amino acid sequence analysis of both the 70-kDa (NPIMA(M)ETTS(M)DSKVNPLL) and the 22-kDa (NQDMAMEASSDPEAA) fish phosphoproteins indicate that these unique amino acid sequences are unlike any published in protein databases. An enzyme-linked immunosorbent assay revealed that the 70-kDa phosphoprotein was present principally in bone and in calcified scales, whereas the 22-kDa phosphoprotein was detected only in bone. Immunohistological analysis revealed diffusely positive immunostaining for both the 70- and 22-kDa phosphoproteins throughout the matrix of the bone. Overall, this work adds additional support to the concept that the mechanism of biological calcification has common evolutionary and fundamental bases throughout vertebrate species.     

Density and maturation of rodlet cells in brain tissue of fathead minnows (Pimephales promelas) exposed to trematode cercariae

Evidence for the presumed linkage between the enigmatic rodlet cells of fish and exposure to helminths is anecdotal and indirect. We evaluated the proliferation and development of rodlet cells in the optic lobes of fathead minnows exposed to cercariae of Ornithodiplostomum ptychocheilus. Mean rodlet cell densities (ca. 10/mm²) in the optic lobes were similar between unexposed controls and minnows with 1- and 2-week old infections. Rodlet cell densities increased at 4 weeks p.i., reaching maxima (ca. 200/mm²) at 6 weeks p.i., followed by a decline at 9 weeks. This temporal pattern of proliferation and maturation paralleled the development of metacercariae within the optic lobes. Unencysted metacercariae develop rapidly within tissues of the optic lobes for approximately 4 weeks after penetration by cercariae, then shift to the adjacent meninges to encyst. The former stage is associated with tissue damage, the latter with massive inflammation of the meninges. Thus, peak densities and maturation of rodlet cells correspond to the period when inflammation of the meninges caused by the large metacercarial cysts is at a maximum. Our results support recent contentions that rodlet cells comprise part of the host inflammatory defence response.     

Multi-species response to rapid environmental change in a large estuary system: A biochronological approach

The sensitivity of species to environmental change is dependent on their ecological requirements (i.e. specialist v. generalist), and hence likely to be species-specific. Identifying species level variation in environmental sensitivity informs assessments of community vulnerability and assists in developing adaptive management strategies. We investigated species-specific sensitivity in fish to understand the vulnerability of differing life histories and ecological requirements to rapid environmental alteration (i.e. drought). Biochronologies of fish growth, based on increment widths in otoliths, were analysed using a mixed modelling approach. We assessed multi-decadal responses in fish growth to environmental variation in the terminal system of Australia’s largest river, for three long-lived fish species with differing life histories and ecological requirements: a freshwater specialist and two estuarine generalists. Biochronologies were between 20 and 38 years long, spanned a decade of severe drought and showed considerable inter-annual variation in growth. Precipitation influenced the growth of the obligate freshwater specialist, Macquaria ambigua ambigua. Temperature and salinity influenced the growth of the two estuarine generalists: Argyrosomus japonicus (estuarine opportunist) and Acanthopagrus butcheri (estuarine dependent), respectively. These results suggest that generalisations about how species respond to environmental change may mask species-specific responses to dependent on the constraints of their ecological requirements (i.e. specialist v. generalist). These findings also highlight the importance of considering the diversity of life history strategies that inhabit an ecosystem when developing conservation and management strategies.     

Linkages between seagrass,mangrove and saltmarsh as fish habitat in the Botany Bay estuary,New South Wales

Shallow-water vegetated estuarine habitats, notably seagrass, mangrove and saltmarsh, are known to be important habitats for many species of small or juvenile fish in temperate Australia. However, the movement of fish between these habitats is poorly understood, and yet critical to the management of the estuarine fisheries resource. We installed a series of buoyant pop nets in adjacent stands of seagrass, mangrove and saltmarsh in order to determine how relative abundance of fishes varied through lunar cycles. Nets were released in all habitats at the peak of the monthly spring tide for 12 months, and in the seagrass habitat at the peak of the neap tide also. The assemblage of fish in each habitat differed during the spring tides. The seagrass assemblage differed between spring and neap tide, with the neap tide assemblage showing greater abundances of fish, particularly those species which visited the adjacent habitats when inundated during spring tides. The result supports the hypothesis that fish move from the seagrass to the adjacent mangrove and saltmarsh during spring tides, taking advantage of high abundances of zooplankton, and use seagrass as a refuge during lower tides. The restoration and preservation of mangrove and saltmarsh utility as fish habitat may in some situations be linked to the proximity of available seagrass.     

Fish community response to the longitudinal environmental gradient in Czech deep-valley reservoirs: Implications for ecological monitoring and management

Ecological quality assessment of non-natural water bodies is, in contrast to natural systems, less developed and requires determining biological indicators that reliably reflect environmental conditions and anthropogenic pressures. This study was motivated to propose fish indicators appropriate for assessment of reservoir ecosystems in central Europe. We analysed changes in water quality, total biomass and the taxonomic, trophic and size composition of fish communities along the longitudinal axes of four elongated, deep-valley reservoirs. Due to high nutrient inputs from their catchments, the reservoirs exhibited pronounced within-system gradients in primary productivity and water transparency. Although fish communities were similar among the reservoirs and dominated by few native species, the community structure and biomass systematically changed along the longitudinal axes of the reservoirs. The biomass and proportion of planktivores/benthivores in the fish community were highest at eutrophic sites near the river inflow and declined substantially towards deep, more oligotrophic sites close to the dam. The biomass and proportion of piscivores significantly increased downstream within the reservoirs alongside improving water quality. At species level, perch Perca fluviatilis and bream Abramis brama responded most sensitively, although in opposite directions, to the longitudinal environmental gradient. The major longitudinal changes in fish community characteristics were found to be consistent between pelagic and benthic habitats. The results of this study suggest that fish communities are appropriate indicators of eutrophication and can be used for ecological quality assessment of non-natural lentic water bodies, such as reservoirs. Moreover, our results underline the necessity to consider within-system gradients in water quality and the fish community when planning sampling programmes for deep-valley reservoirs.     

The effect of starvation on the ultrastructure of the red and white myotomal muscles of the crucian carp (Carassius carassius)

Summary The effect of 16 weeks total starvation on the ultrastructure of the red and white myotomal muscles of the crucian carp (Carassius Carassius) has been investigated. In the white fibres the amount of myofibrillar material fell from 89.6% to 70.7% of the total fibre volume whilst in the red fibres the fall was from 72.2% to 70.3%. The sarcoplasmic reticulum appeared to have become swollen during starvation in both fibre types. In the white fibres the terminal cisternae of some triads seem to have fused. The volume of the red fibres occupied by mitochondria was reduced from 16.2 % to 5.9 %. The concentration of mitochondria in the white fibres was too low to detect any quantitative changes. A marked reduction in the amount of euchromatin material was observed in most white fibre nuclei and many red fibre nuclei. Many of the ultrastructural changes noted in the present study can be correlated with biochemical changes known to occur in the red and white myotomal muscles of fish during starvation. This work was supported by a grant from the Natural Environmental Research Council.     

Local movements and population size of European eels,Anguilla anguilla,in a small lake in southwestern Spain

Synopsis Radio telemetry was used to study the movements of European eels,Anguilla anguilla, in a small (1.2 ha) lake in southwestern Spain in March and April, 1985. Observations were taken on the locations of 7 eels at least once each 2 h for a combined total of 1713 h. The size of individual activity regions varied from 2700 to 1300 m². Eels covered a larger area at night than during the day, with an average of 23% and 42% of the activity region used during the day and night respectively. Average distance moved between observations was significantly greater at night than in the day. Eels tracked during rainy and cloudy weather were more active during the day and used a larger total area than did those tracked during drier, more stable weather. The standing crop of eels was estimated to be about 77 kg ha^–1.