An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

Deletions of muscle mitochondrial DNA (mtDNA) have recently been found in patients with mitochondrial myopathy. However, as most of the described cases were sporadic, and individual deletions involved different portions of mtDNA, the mechanism(s) producing the molecular lesions, as well as their mode of transmission, remain unclear. By studying families with mtDNA heteroplasmy, valuable information can be obtained about the role of inheritable factors in the pathogenesis of these disorders. We have studied four members of a family with autosomal dominant mitochondrial myopathy. Multiple deletions, involving the same portion of muscle mtDNA, were identified in all patients. Sequence analysis of the mutant mtDNAs, performed after DNA amplification by the polymerase-chain reaction showed that all the deletions start within a 12-nucleotide stretch at the 5' end of the D-loop region, a site of active communication between the nucleus and the mtDNA. The data indicate that a mutation of a nuclear-coded protein can destroy the integrity of the mitochondrial genome in a specific, heritable way.     

Further studies on endothelial cells of vertebrates and the problem of endothelial granules

Resumen Se describe la ultraestructura de células endoteliales de aorta abdominal de murciélago, foca y pinguino y se discuten los resultados en función de estudios precedentes nuestros y de otros autores sobre esas células en differentes especies. La presencia, o ausencia, y frequencia de los gránulos citoplasmáticos en las células endoteliales en las especies estudiadas parecería la expressión de un proceso evolutivo a nivel de clases.     

A large dust/ice ratio in the nucleus of comet 9P/Tempel 1

Comets spend most of their life in a low-temperature environment far from the Sun. They are therefore relatively unprocessed and maintain information about the formation conditions of the planetary system, but the structure and composition of their nuclei are poorly understood. Although in situ and remote measurements have derived the global properties of some cometary nuclei, little is known about their interiors. The Deep Impact mission shot a projectile into comet 9P/Tempel 1 in order to investigate its interior. Here we report the water vapour content (1.5 10(32) water molecules or 4.5 10(6) kg) and the cross-section of the dust (330 km2 assuming an albedo of 0.1) created by the impact. The corresponding dust/ice mass ratio is probably larger than one, suggesting that comets are 'icy dirtballs' rather than 'dirty snowballs' as commonly believed. High dust velocities (between 110 m s(-1) and 300 m s(-1)) imply acceleration in the comet's coma, probably by water molecules sublimated by solar radiation. We did not find evidence of enhanced activity of 9P/Tempel 1 in the days after the impact, suggesting that in general impacts of meteoroids are not the cause of cometary outbursts.     

ClustNails:Visual Analysis of Subspace Clusters

Subspace clustering addresses an important problem in clustering multi-dimensional data.In sparse multi-dimensional data,many dimensions are irrelevant and obscure the cluster boundaries.Subspace clustering helps by mining the clusters present in only locally relevant subsets of dimensions.However,understanding the result of subspace clustering by analysts is not trivial.In addition to the grouping information,relevant sets of dimensions and overlaps between groups,both in terms of dimensions and records,need to be analyzed.We introduce a visual subspace cluster analysis system called ClustNails.It integrates several novel visualization techniques with various user interaction facilities to support navigating and interpreting the result of subspace clustering.We demonstrate the effectiveness of the proposed system by applying it to the analysis of real world data and comparing it with existing visual subspace cluster analysis systems.     

A novel type of granules observed in toad endothelial cells and their relationship with blood pressure active factors

Resumen Los gránulos citoplasmáticos de células endoteliales de aorta de sapo fueron separados en fracciones subcelulares, obtenidas por centrifugación diferencial, de homogenados de esa arteria. Los sedimentos que contienen los gránulos, liberaron factores hipertensores bajo el efecto de un «shock» osmótico.     

Cellular copper distribution: a mechanistic systems biology approach

Copper is an essential but potentially harmful trace element required in many enzymatic processes involving redox chemistry. Cellular copper homeostasis in mammals is predominantly maintained by regulating copper transport through the copper import CTR proteins and the copper exporters ATP7A and ATP7B. Once copper is imported into the cell, several pathways involving a number of copper proteins are responsible for trafficking it specifically where it is required for cellular life, thus avoiding the release of harmful free copper ions. In this study we review recent progress made in understanding the molecular mechanisms of copper transport in cells by analyzing structural features of copper proteins, their mode of interaction, and their thermodynamic and kinetic parameters, thus contributing to systems biology of copper within the cell.