X-Linked Emery-Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers.

X-linked Emery-Dreifuss muscular dystrophy (EDMD1) affects approximately 1:100,000 male births. Female carriers are usually asymptomatic but, in some cases, they may present clinical symptoms after age 50 at cardiac level, especially in the form of conduction tissue anomalies. The aim of this study was to evaluate the relation between heart involvement in symptomatic EDMD1 carriers and the X-chromosome inactivation (XCI) pattern.

A rapid, safe, and quantitative in vitro assay for measurement of uracil-DNA glycosylase activity.

Base excision repair (BER) is a frontline repair mechanism that operates through the G phase of the cell cycle, which ensures the genome integrity by repairing thousands of DNA lesions due to endogenous and exogenous agents. Its correct functioning is fundamental for cell viability and the health of the organism. Uracil is one of the most prevalent lesions that appears in DNA arising by spontaneous or enzymatic deamination of cytosine or misincorporation of the deoxyuridine 5'-triphosphate nucleotide (dUTP) in place of deoxythymidine 5'-triphosphate (dTTP) during DNA replication.

Hybrid complexes of high and low molecular weight hyaluronan delay in vitro replicative senescence of mesenchymal stromal cells: a pilot study for future therapeutic application.

Mesenchymal stem cells, a subpopulation of mesenchymal stromal cells (MSCs), are present in the stroma of several tissues. MSC cultivation for clinical treatments may greatly affect MSC properties. A primary handicap is replicative senescence that impairs MSC functions.

Neural stem cells from a mouse model of Rett syndrome are prone to senescence, show reduced capacity to cope with genotoxic stress, and are impaired in the differentiation process.

Several aspects of stem cell life are governed by epigenetic variations, such as DNA methylation, histone modifications, and chromatin remodeling. Epigenetic events are also connected with the impairment of stem cell functions. For example, during senescence, there are significant changes in chromatin organization that alter transcription.

Skewed X-chromosome inactivation plays a crucial role in the onset of symptoms in carriers of Becker muscular dystrophy.

Background: Becker muscular dystrophy (BMD) is an X-linked recessive disorder affecting approximately 1: 18.000 male births. Female carriers are usually asymptomatic, although 2.

Low dose radiation induced senescence of human mesenchymal stromal cells and impaired the autophagy process.

Low doses of radiation may have profound effects on cellular function. Individuals may be exposed to low doses of radiation either intentionally for medical purposes or accidentally, such as those exposed to radiological terrorism or those who live near illegal radioactive waste dumpsites.We studied the effects of low dose radiation on human bone marrow mesenchymal stromal cells (MSC), which contain a subpopulation of stem cells able to differentiate in bone, cartilage, and fat; support hematopoiesis; and contribute to body's homeostasis.

Sera of overweight people promote in vitro adipocyte differentiation of bone marrow stromal cells.

Introduction: Overweight status should not be considered merely an aesthetic concern; rather, it can incur health risks since it may trigger a cascade of events that produce further fat tissue through altered levels of circulating signaling molecules.

Methods: We decided to investigate the influence of overweight individuals' sera on in vitro MSC proliferation and differentiation.

Results: We observed that in vitro incubation of bone marrow stromal cells with the sera of overweight individuals promotes the adipogenic differentiation of MSCs while partially impairing proper osteogenesis.

Preamplification procedure for the analysis of ancient DNA samples.

In ancient DNA studies the low amount of endogenous DNA represents a limiting factor that often hampers the result achievement. In this study we extracted the DNA from nine human skeletal remains of different ages found in the Byzantine cemetery of Abdera Halkidiki and in the medieval cemetery of St. Spiridion in Rhodes (Greece).

Skeletal muscle oxidative metabolism in an animal model of pulmonary emphysema: formoterol and skeletal muscle dysfunction.

Skeletal muscle dysfunction is a significant contributor to exercise limitation in pulmonary emphysema. This study investigated skeletal muscle oxidative metabolism before and after aerosol exposure to a long-acting β-agonist (LABA), such as formoterol, in the pallid mouse (B6.Cg-Pldnpa/J), which has a deficiency in serum α(1)-antitrypsin (α(1)-PI) and develops spontaneous pulmonary emphysema.

Formation and properties of organo-phosphatase complexes by abiotic and biotic polymerization of pyrogallol-phosphatase mixtures.

In this paper, the catalytic efficacy of peroxidase and manganese oxide, both commonly present in soil, to catalyze the formation of pyrogallol-phosphatase complexes was compared. The influence of several factors (e.g.

Ancient DNA and family relationships in a Pompeian house.

Archaeological, anthropological and pathological data suggest that thirteen skeletons found in a house at the Pompeii archaeological site, dated to 79 A.D., belong to one family.

Coprecipitation of arsenate with metal oxides. 3. Nature, mineralogy, and reactivity of iron(III)-aluminum precipitates.

Coprecipitation involving arsenic with aluminum or iron has been studied because this technique is considered particularly efficient for removal of this toxic element from polluted waters. Coprecipitation of arsenic with mixed iron-aluminum solutions has received scant attention. In this work we studied (i)the mineralogy, surface properties, and chemical composition of mixed iron-aluminum oxides formed at initial Fe/Al molar ratio of 1.

Coprecipitation of arsenate with metal oxides. 2. Nature, mineralogy, and reactivity of iron(III) precipitates.

Coprecipitation of arsenic with iron or aluminum occurs in natural environments and is a remediation technology used to remove this toxic metalloid from drinking water and hydrometallurgical solutions. In this work, we studied the nature, mineralogy, and reactivity toward phosphate of iron-arsenate coprecipitates formed at As(V)/Fe(III) molar ratios (R) of 0, 0.01, or 0.

Coprecipitation of arsenate with metal oxides: nature, mineralogy, and reactivity of aluminum precipitates.

Arsenic mobilization in soils is mainly controlled by sorption/desorption processes, but arsenic also may be coprecipitated with aluminum and/or iron in natural environments. Although coprecipitation of arsenic with aluminum and iron oxides is an effective treatment process for arsenic removal from drinking water, the nature and reactivity of aluminum- or iron-arsenic coprecipitates has received little attention. We studied the mineralogy, chemical composition, and surface properties of aluminum-arsenate coprecipitates, as well as the sorption of phosphate on and the loss of arsenate from these precipitates.

2000 Year-old ancient equids: an ancient-DNA lesson from pompeii remains.

Ancient DNA extracted from 2000 year-old equine bones was examined in order to amplify mitochondrial and nuclear DNA fragments. A specific equine satellite-type sequence representing 3.7%-11% of the entire equine genome, proved to be a suitable target to address the question of the presence of aDNA in ancient bones.

Enzymatic repair of selected cross-linked homoduplex molecules enhances nuclear gene rescue from Pompeii and Herculaneum remains.

Ancient DNA (aDNA) samples extracted from the bone remains of six equids buried by the Vesuvius eruption in 79 AD were investigated to test pre-amplification and enzymatic repair procedures designed to enhance the rescue of nuclear genes. The extracts, which proved all positive for Equidae mtDNA amplification, proved positive only four times out of 18 when tested for single-copy Equidae nuclear genes (epsilon globin, p53 and gamma interferon). Pre-amplification did not change the number of retrieved aDNA sequences but 10 times out of 14 enzymatic repair restored the amplifiability of the genes analysed, proving that repair increases the rate of successful rescue from 22 to alpha(lambda)mu(omicron)sigma(tau) 80%.