TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

We carried out whole-genome homozygosity mapping, gene expression analysis and DNA sequencing in individuals with isolated mitochondrial ATP synthase deficiency and identified disease-causing mutations in TMEM70. Complementation of the cell lines of these individuals with wild-type TMEM70 restored biogenesis and metabolic function of the enzyme complex. Our results show that TMEM70 is involved in mitochondrial ATP synthase biogenesis in higher eukaryotes.     

Clusters of iron-rich cells in the upper beak of pigeons are macrophages not magnetosensitive neurons

Understanding the molecular and cellular mechanisms that mediate magnetosensation in vertebrates is a formidable scientific problem. One hypothesis is that magnetic information is transduced into neuronal impulses by using a magnetite-based magnetoreceptor. Previous studies claim to have identified a magnetic sense system in the pigeon, common to avian species, which consists of magnetite-containing trigeminal afferents located at six specific loci in the rostral subepidermis of the beak. These studies have been widely accepted in the field and heavily relied upon by both behavioural biologists and physicists. Here we show that clusters of iron-rich cells in the rostro-medial upper beak of the pigeon Columbia livia are macrophages, not magnetosensitive neurons. Our systematic characterization of the pigeon upper beak identified iron-rich cells in the stratum laxum of the subepidermis, the basal region of the respiratory epithelium and the apex of feather follicles. Using a three-dimensional blueprint of the pigeon beak created by magnetic resonance imaging and computed tomography, we mapped the location of iron-rich cells, revealing unexpected variation in their distribution and number--an observation that is inconsistent with a role in magnetic sensation. Ultrastructure analysis of these cells, which are not unique to the beak, showed that their subcellular architecture includes ferritin-like granules, siderosomes, haemosiderin and filopodia, characteristics of iron-rich macrophages. Our conclusion that these cells are macrophages and not magnetosensitive neurons is supported by immunohistological studies showing co-localization with the antigen-presenting molecule major histocompatibility complex class II. Our work necessitates a renewed search for the true magnetite-dependent magnetoreceptor in birds.     

The worldwide leaf economics spectrum

Bringing together leaf trait data spanning 2,548 species and 175 sites we describe, for the first time at global scale, a universal spectrum of leaf economics consisting of key chemical, structural and physiological properties. The spectrum runs from quick to slow return on investments of nutrients and dry mass in leaves, and operates largely independently of growth form, plant functional type or biome. Categories along the spectrum would, in general, describe leaf economic variation at the global scale better than plant functional types, because functional types overlap substantially in their leaf traits. Overall, modulation of leaf traits and trait relationships by climate is surprisingly modest, although some striking and significant patterns can be seen. Reliable quantification of the leaf economics spectrum and its interaction with climate will prove valuable for modelling nutrient fluxes and vegetation boundaries under changing land-use and climate.     

Mutationsauslösung beiDrosophila durch Äthylurethan

Summary Injection of sublethal doses of ethylurethane intoDrosophila melanogaster males increases the mutation rate for sex-linked lethals up to about 3.4%, as compared with 0.6% in the controls. In addition, several recessive and dominant visible mutations were obtained in the urethane series, while none were found in the control series. Up to the present there is no evidence for an induction of specific mutations by ethylurethane.     

Neuer Beitrag zur Determination der Imaginalscheiben beiDrosophila

Summary The temperature effective period for the formation of double antennæ and palpi in the gene-combinationsc ec ct; Dfd ^r-L ends with the second half of the third larval stage. The t.e.p. of the mutantsaristopedia andproboscipedia ends with puparium formation. Thus we have another proof that the imaginal discs ofDrosophila are not definitely determined in the last larval stage.     

Knockout of the Bcmo1 gene results in an inflammatory response in female lung, which is suppressed by dietary beta-carotene

Beta-carotene 15,15′-monooxygenase 1 knockout (Bcmo1 ^?/?) mice accumulate beta-carotene (BC) similarly to humans, whereas wild-type (Bcmo1 ^+/+) mice efficiently cleave BC. Bcmo1 ^?/? mice are therefore suitable to investigate BC-induced alterations in gene expression in lung, assessed by microarray analysis. Bcmo1 ^?/? mice receiving control diet had increased expression of inflammatory genes as compared to BC-supplemented Bcmo1 ^?/? mice and Bcmo1 ^+/+ mice that received either control or BC-supplemented diets. Differential gene expression in Bcmo1 ^?/? mice was confirmed by real-time quantitative PCR. Histochemical analysis indeed showed an increase in inflammatory cells in lungs of control Bcmo1 ^?/? mice. Supported by metabolite and gene-expression data, we hypothesize that the increased inflammatory response is due to an altered BC metabolism, resulting in an increased vitamin A requirement in Bcmo1 ^?/? mice. This suggests that effects of BC may depend on inter-individual variations in BC-metabolizing enzymes, such as the frequently occurring human polymorphisms in BCMO1.     

Histone deacetylase signaling in cardioprotection

Cardiovascular disease (CVD) represents a major challenge for health care systems, both in terms of the high mortality associated with it and the huge economic burden of its treatment. Although CVD represents a diverse range of disorders, they share common compensatory changes in the heart at the structural, cellular, and molecular level that, in the long term, can become maladaptive and lead to heart failure. Treatment of adverse cardiac remodeling is therefore an important step in preventing this fatal progression. Although previous efforts have been primarily focused on inhibition of deleterious signaling cascades, the stimulation of endogenous cardioprotective mechanisms offers a potent therapeutic tool. In this review, we discuss class I and class II histone deacetylases, a subset of chromatin-modifying enzymes known to have critical roles in the regulation of cardiac remodeling. In particular, we discuss their molecular modes of action and go on to consider how their inhibition or the stimulation of their intrinsic cardioprotective properties may provide a potential therapeutic route for the clinical treatment of CVD.     

Hh signaling in regeneration of the ischemic heart

Myocardial infarction (MI) is caused by the occlusion of a coronary artery due to underlying atherosclerosis complicated by localized thrombosis. The blockage of blood flow leads to cardiomyocyte (CM) death in the infarcted area. Adult mammalian cardiomyocytes have little capacity to proliferate in response to injury; however, some pathways active during embryogenesis and silent during adult life are recruited in response to tissue injury. One such example is hedgehog (Hh) signaling. Hh is involved in the embryonic development of the heart and coronary vascular system. Pathological conditions including ischemia activate Hh signaling in adult tissues. This review highlights the involvement of Hh signaling in ischemic tissue regeneration with a particular emphasis on heart regeneration and discusses its potential role as a therapeutic agent.     

Estimating the young evolutionary age of marbled crayfish from museum samples

ABSTRACT

The obligately parthenogenetic, all-female marbled crayfish, Procambarus virginalis, is a triploid descendant of the similarly looking, sexually reproducing slough crayfish, Procambarus fallax, native to Florida and southern Georgia. We have earlier hypothesised that marbled crayfish may have originated from P. fallax only some 25 years ago, perhaps in captivity. In order to investigate the young evolutionary age hypothesis in more detail, I searched the P. fallax collection of the Smithsonian Institution Museum of Natural History (USNM, Washington, D.C.) for evidence of marbled crayfish before its detection in the German aquarium trade in 1995. In particular, I analysed the sex ratio of P. fallax and the frequency of pure female samples throughout its entire distribution range to detect potentially misidentified marbled crayfish among the P. fallax. If marbled crayfish had originated from P. fallax long ago, spread throughout Florida and Georgia and erroneously been sampled as P. fallax, then the sex ratio of the P. fallax in the collection should be significantly biased towards females and pure female samples should be much more frequent than in related Procambarus species. Comparison of P. fallax (n = 2299) with its closest relatives P. seminolae (n = 801) and P. leonensis (n = 150) revealed female proportions of 55.33%, 53.93% and 54.67%, respectively, which are not significantly different from each other. The average female proportion of the 14 Procambarus species investigated (8641 specimens) was 52.54 ± 7.54% (mean ± standard deviation). Moreover, pure female samples consisting of more than 3 specimens that could represent hidden marbled crayfish were not conspicuously more common in P. fallax (2.33%) than in all Procambarus species investigated (1.24 ± 1.79%). These data suggest that the P. fallax collection of the USNM consists of real, sexually reproducing P. fallax and does most likely not include hidden marbled crayfish, supporting the young evolutionary age hypothesis for marbled crayfish.