Tri-allelic pattern at the TPOX locus: A familial study

Alleles at the TPOX STR locus have 6–14 different numbers of a four-nucleotide (AATG) repeat motif arranged in tandem. Although tri-allelic genotypes are generally rare, the TPOX tri-allelic pattern has a higher frequency, varying widely among populations. Despite this, there are few accurate reports to disclose the nature of the TPOX third allele. In this work we present data obtained from 45 individuals belonging to the same pedigree, in which there are cases of tri-allelic TPOX genotypes. The subjects were apparently healthy with a normal biological development. We noticed six tri-allelic cases in this family, and all of them were women. Karyotype analysis showed no occurrence of partial 2p trisomy. All the tri-allelic cases had the genotype 8–10–11, probably due to three copies of the TPOX STR sequence in all cells (Type 2 tri-allelic pattern). Based on previous data we assumed the allele 10 as the TPOX third allele. The pedigree analyses show evidences that the TPOX extra-allele was the allele10, it is placed far from the main TPOX locus, and that there is a potential linkage of the TPOX extra-allele-10 with Xq. This was the first study that included a large pedigree analysis in order to understand the nature TPOX tri-allelic pattern.     

External Ca2+ regulates polycystin-2 (TRPP2) cation currents in LLC-PK1 renal epithelial cells

Polycystin-2 (PC2, TRPP2) is a nonselective cation channel whose dysfunction is associated with the onset of autosomal dominant polycystic kidney disease (ADPKD). PC2 contributes to Ca²⁺ transport and cell signaling in renal epithelia and other tissues. Little is known however, as to the external Ca²⁺ regulation of PC2 channel function. In this study, we explored the effect of external Ca²⁺ on endogenous PC2 in wild type LLC-PK1 renal epithelial cells. We obtained whole cell currents at different external Ca²⁺ concentrations, and observed that the basal whole cell conductance in normal Ca²⁺(1.2 mM), decreased by 30.2% in zero (nominal) Ca²⁺ and conversely, increased by 38% in high external Ca²⁺(6.2 mM). The high Ca²⁺-increased whole cell currents were completely inhibited by either PC2 gene silencing, or intracellular dialysis with active, but not denatured by boiling, PC2 antibody. Exposure of cells to high Ca²⁺ was also associated with relocation of PC2 to the plasma membrane. To explore whether a Ca²⁺ sensing receptor (CaSR) was implicated in the external Ca²⁺ modulation of PC2 currents, we tested the effect of the CaSR agonists, spermine and the calcimimetic R-568, which largely mimicked the effect of high Ca²⁺ under Ca²⁺-free conditions. The CaSR agonist gentamicin also increased the PC2 currents in the presence of normal Ca²⁺. The presence of CaSR was confirmed by immunocytochemistry, which partially colocalized with the intracellular PC2 protein, in an external Ca²⁺-dependent manner. The data support a novel Ca²⁺ sensing mechanism for PC2 expression and functional regulation in renal epithelial cells.     

Influencia de la ocupación en el deterioro cognitivo libre de demencia en una muestra de sujetos mayores de 55 años de Zaragoza

Introduction

The prevalence of cognitive impairment with no dementia (CIND) varies between 5.1% and 35.9%, increasing between 65 and 85 years. The CIND increases the risk of dementia. Factors such as education, occupation, and social activities are associated with the risk of cognitive impairment. The main objective of this study was to analyse the association between the main occupation developed throughout life and CIND in a general population sample of over 55 years.

Taking a look on fungi in cystic fibrosis: More questions than answers

Cystic fibrosis (CF) is one of the most frequent recessive inherited diseases in western countries. Advances in medical care have led to a substantial increase in the life expectancy of CF patients. Survival beyond adolescence has permitted to see fungi not only as late colonizers, but also as potential pathogens responsible of allergic reactions and chronic infections related to lung function deterioration. The role of fungi, nevertheless, has been overlooked until recently. As a result, a number of questions on their epidemiology, clinical significance, or diagnosis, among others, remain unanswered. Besides more in depth studies about the extent of the deleterious effect of fungi on the CF host, new technologies may provide the key to understand its pathogenic role, its interaction with other microbial components of the respiratory microbiota, and should pave the way to define subsets of patients at risk who would benefit from specific therapy. This review is intended to provide a quick overview on what we know about the presence of fungi in the CF airway and its repercussion in the host, and to point out some of the many knowledge gaps needed to understand and advance in the management of fungi in the airway of CF subjects.     

Identification of Mucor circinelloides antigens recognized by sera from immunocompromised infected mice

BackgroundMucor circinelloides is an opportunistic fungus capable of causing mucormycosis, a highly aggressive infection of quick spreading. Besides, it also has a high mortality rate due to late diagnosis and difficult treatment.AimsIn this study we have identified the most immunoreactive proteins of the secretome and the total protein extract of M. circinelloides using sera from immunocompromised infected mice.MethodsThe proteins of the secretome and the total extract were analyzed by two-dimensional electrophoresis and the most immunoreactive antigens were detected by Western Blot, facing the sera of immunocompromised infected mice to the proteins obtained in both extracts of M. circinelloides.ResultsSeven antigens were detected in the secretome extract, and two in the total extract, all of them corresponding only to three proteins. The enzyme enolase was detected in both extracts, while triosephosphate isomerase was detected in the secretome, and heat shock protein HSS1 in the total extract.ConclusionsIn this work the most immunoreactive antigens of the secretome and the total extract of M. circinelloides were identified. The identified proteins are well known fungal antigens and, therefore, these findings can be useful for future research into alternatives for the diagnosis and treatment of mucormycosis.     

On identifying common distribution patterns and their causal factors: a probabilistic method applied to pteridophytes in the Iberian Peninsula

Abstract. The aim of this quantitative biogeographical analysis is to identify the existence of specific groups of pteridophytes with significantly similar distribution patterns (chorotypes) in the Iberian Peninsula, as well as to infer the environmental factors that may explain such groupings. We have applied a classification method to the pteridophyte species and have then tested the significance of the resulting groups. This allows the distinction of groups of species that occur together more frequently than expected at random from those which are just a product of the cluster analysis. The majority of the 113 pteridophyte species in the Iberian Peninsula are not distributed independently from each other, but eighteen chorotypes exist that are common to various species and three chorotypes that consist of one species each. Five species are distributed independently of the other species, and so their distribution areas overlap and segregate from the others at random. With the aim of finding a relation between the chorotypes identified and the processes that determine them, we investigated the possible incidence of certain environmental factors on the chorotype distributions by means of logistic regression. Factors that appear most frequently as possible causes of the distribution of the chorotypes are the water availability, climatic stress, availability of environmental energy, and disturbances caused by floods. Resumen . El objetivo de este análisis biogeográfico cuantitativo es identificar la posible existencia de grupos de especies de pteridófitos con patrones de distribución significantivamente similares (corotipos) en la Peninsula Ibérica, así como analizar los factores ambientales que explican tales grupos. Hemos aplicado un método de clasificatión biogeográfica de especies y después hemos comprobado la significación de los grupos resultantes. Esto nos ha permitido distinguir los grupos de especies que se asocian con más frecuencia de lo esperado por azar de aquellos grupos que se deben únicamente al análisis de agrupación. La mayoría de las 113 especies de pteridófitos en la Península Ibérica no se distribuyen independientemente unas de otras, sino que existen 18 corotipos que son comunes a varias especies y tres que están formados por una sola especie. Cinco especies se distribuyen independientemente de las restantes, y por tanto, sus áreas de distribución se solapan y se segregan con las demás al azar. Con objeto de encontrar una relación entre los corotipos identificados en el presente trabajo y los procesos que los determinan, investigamos por medio de regresiones logísticas la posible incidencia de ciertos factores ambientales sobre las distribuciones de los corotipos. Los factores que han aparecido más frecuentemente como posibles causas de las distribuciones de los corotipos son la disponibilidad de agua, el estrés climático, la energía ambiental disponible y los disturbios causados por las inundaciones.