Transcriptional regulation differs in affected facioscapulohumeral muscular dystrophy patients compared to asymptomatic related carriers

Facioscapulohumeral muscular dystrophy (FSHD) is a progressive muscle disorder that has been associated with a contraction of 3.3-kb repeats on chromosome 4q35. FSHD is characterized by a wide clinical inter- and intrafamilial variability, ranging from wheelchair-bound patients to asymptomatic carriers. Our study is unique in comparing the gene expression profiles from related affected, asymptomatic carrier, and control individuals. Our results suggest that the expression of genes on chromosome 4q is altered in affected and asymptomatic individuals. Remarkably, the changes seen in asymptomatic samples are largely in products of genes encoding several chemokines, whereas the changes seen in affected samples are largely in genes governing the synthesis of GPI-linked proteins and histone acetylation. Besides this, the affected patient and related asymptomatic carrier share the 4qA161 haplotype. Thus, these polymorphisms by themselves do not explain the pathogenicity of the contracted allele. Interestingly, our results also suggest that the miRNAs might mediate the regulatory network in FSHD. Together, our results support the previous evidence that FSHD may be caused by transcriptional dysregulation of multiple genes, in cis and in trans, and suggest some factors potentially important for FSHD pathogenesis. The study of the gene expression profiles from asymptomatic carriers and related affected patients is a unique approach to try to enhance our understanding of the missing link between the contraction in D4Z4 repeats and muscle disease, while minimizing the effects of differences resulting from genetic background.

Pinguino In-bearing polymetallic vein deposit, Deseado Massif, Patagonia, Argentina: characteristics of mineralization and ore-forming fluids

The Pinguino deposit, located in the low sulfidation epithermal metallogenetical province of the Deseado Massif, Patagonia, Argentina, represents a distinct deposit type in the region. It evolved through two different mineralization events: an early In-bearing polymetallic event that introduced In, Zn, Pb, Ag, Cd, Au, As, Cu, Sn, W and Bi represented by complex sulfide mineralogy, and a late Ag-Au quartz-rich vein type that crosscut and overprints the early polymetallic mineralization. The indium-bearing polymetallic mineralization developed in three stages: an early Cu-Au-In-As-Sn-W-Bi stage (Ps(1)), a Zn-Pb-Ag-In-Cd-Sb stage (Ps(2)) and a late Zn-In-Cd (Ps(3)). Indium concentrations in the polymetallic veins show a wide range (3.4 to 1,184 ppm In). The highest indium values (up to 1,184 ppm) relate to the Ps(2) mineralization stage, and are associated with Fe-rich sphalerites, although significant In enrichment (up to 159 ppm) is also present in the Ps(1) paragenesis associated with Sn-minerals (ferrokesterite and cassiterite). The hydrothermal alteration associated with the polymetallic mineralization is characterized by advanced argillic alteration within the immediate vein zone, and sericitic alteration enveloping the vein zone. Fluid inclusion studies indicate homogenisation temperatures of 308.2-327A degrees C for Ps(1) and 255-312.4A degrees C for Ps(2), and low to moderate salinities (2 to 5 eq.wt.% NaCl and 4 to 9 eq.wt.% NaCl, respectively). delta(34)S values of sulfide minerals (+0.76aEuro degrees to +3.61aEuro degrees) indicate a possible magmatic source for the sulfur in the polymetallic mineralization while Pb isotope ratios for the sulfides and magmatic rocks ((206)Pb/(204)Pb, (207)Pb/(204)Pb and (208)Pb/(204)Pb ratios of 17.379 to 18.502; 15.588 to 15.730 and 38.234 to 38.756, respectively) are consistent with the possibility that the Pb reservoirs for both had the same crustal source. Spatial relationships, hydrothermal alteration styles, S and Pb isotopic data suggest a probable genetic relation between the polymetallic mineralization and dioritic intrusions that could have been the source of metals and hydrothermal fluids. Mineralization paragenesis, alteration mineralogy, geochemical signatures, fluid inclusion data and isotopic data, confirm that the In-bearing polymetallic mineralization from Pinguino deposit is a distinct type, in comparison with the well-known epithermal low sulfidation mineralization from the Deseado Massif.

Isotopic evidence for the late Brasiliano (500-550 Ma) ore-forming mineralization of the Araes gold deposit, Brazil

The Araes gold deposit, located in eastern Mato Grosso State, central Brazil, is hosted in Neoproterozoic volcanosedimentary rocks of the Paraguay belt, which formed during collision of the Amazonian craton and the Rio Apa block. Ar-40/Ar-39 geochronology and Pb and S isotopic analyses constrain the timing and sources of mineralization. Three biotite flakes from two samples of metavolcanic host rock yield Ar-40/Ar-39 plateau ages between 5941 and 531 Ma, interpreted as cooling ages following regional metamorphism. Clay minerals from a hydrothermal alteration zone yield an Ar-40/Ar-39 integrated age of 503 +/- 3 Ma. Galena grains from ore-bearing veins yield values of Pb-206/(204)pb from 17.952 to 18.383, Pb-207/Pb-204 from 15.156 to 15.811, and Pb-208/Pb-204 from 38.072 to 39.681. Pyrite grains from ore-bearing veins yield values of Pb-206/Pb-204 from 18.037 to 18.202, Pb-207/Pb-204 from 15.744 to 15.901., and Pb-208/(204)pb from 38.338 to 38.800. Pb isotope variations may be explained in terms of mixing a less radiogenic lead component (mu similar to 8.4) from mafic and ultramafic basement host-rocks (Nova Xavantina metavolcanosedimentary rocks) and a more radiogenic lead component (mu similar to 9.2) probably derived from supracrustal rocks (Cuiaba sedimentary groups). Sulfur isotope compositions are homogeneous, with delta S-34 values ranging from -1.1 parts per thousand to 0.9 parts per thousand (galena) and -0.7 parts per thousand to 0.9 parts per thousand (pyrite), suggesting a mantle-derived reservoir for the mineralizing solutions. Based on the Ar, Pb, and S isotope data, we suggest that the precious metals were remobilized from metavolcanic host rocks by hydrothermal solutions during Brasilide-Panafrican regional metamorphism. The Arabs gold deposit probably formed during a late stage of the orogeny, coeval with other mineralization events in the Paraguay Belt.

Mineralogy and trace-element geochemistry of the high-grade iron ores of the Aguas Claras Mine and comparison with the Capao Xavier and Tamandua iron ore deposits, Quadrilahero Ferrifero, Brazil

Several major iron deposits occur in the Quadrilatero Ferrifero (QF), southeastern region of Brazil, where metamorphosed and heterogeneously deformed banded iron formation (BIF) of the Caue Formation, regionally called itabirite, was transformed into high- (Fe >64%) and lowgrade (30%ores. Based on their mineralogical composition, three major types of itabirites occur in the QF: siliceous, dolomitic, and amphibolitic itabirite. Unlike other mines in the QF, the Aguas Claras Mine contained mainly high-grade ores hosted within dolomitic itabirite. Two distinct types of high-grade ore occurred at the mine: soft and hard. The soft ore was the most abundant and represented more than 85% of the total ore mined until it was mined out in 2002. Soft and hard ores consist essentially of hematite, occurring as martite, anhedral to granular/tabular hematite and, locally, specularite. Gangue minerals are rare, consisting of dolomite, sericite, chlorite, and apatite in the hard and soft ores, and Mn-oxides and ferrihydrite in the soft ore where they are concentrated within porous bands. Chemical analyses show that hard and soft ores consist almost entirely of Fe(2)O(3), with a higher amount of detrimental impurities, especially MnO, in the soft ore. Both hard and soft ores are depleted in trace elements. The high-grade ores at the Aguas Claras Mine have at least a dual origin, involving hypogene and supergene processes. The occurrence of the hard, massive high-grade ore within ""fresh"" dolomitic itabirite is evidence of its hypogene origin. Despite the contention about the origin of the dolomitic itabirite (if this rock is a carbonate-rich facies of the Caue Formation or a hematite-carbonate precursor of the soft high-grade ore), mineralogical and geochemical features of the soft high-grade ore indicate that it was formed by leaching of dolomite from the dolomitic itabirite by meteoric water. The comparison of the Aguas Claras, Capao Xavier and Tamandua orebodies shows that the original composition of the itabiritic protore plays a major role in the genesis of high- and low-grade soft ores in the QF. Under the same weathering and structural conditions, the dolomitic itabirite is the more favorable to form high-grade deposits than siliceous itabirite. Field relations at the Aguas Claras and Capao Xavier deposits suggest that it is not possible to form huge soft high-grade supergene deposits from siliceous itabirite, unless another control, such as impermeable barriers, had played an important role. The occurrence in the Tamandua Mine of a large, soft, high-grade orebody formed from siliceous itabirite and closely associated with hypogene hard ore suggests that large, soft, high-grade orebodies of the Quadrilatero Ferrifero, which occur within siliceous itabirite, have a hypogene contribution in their formation.

Flow injection analysis of ethyl xanthate by gas diffusion and UV detection as CS(2) for process monitoring of sulfide ore flotation

A sensitive and robust analytical method for spectrophotometric determination of ethyl xanthate, CH(3)CH(2)OCS(2)(-) at trace concentrations in pulp solutions from froth flotation process is proposed. The analytical method is based on the decomposition of ethyl xanthate. EtX(-), with 2.0 mol L(-1) HCl generating ethanol and carbon disulfide. CS(2). A gas diffusion cell assures that only the volatile compounds diffuse through a PTFE membrane towards an acceptor stream of deionized water, thus avoiding the interferences of non-volatile compounds and suspended particles. The CS(2) is selectively detected by UV absorbance at 206 nm (epsilon = 65,000 L mol(-1) cm(-1)). The measured absorbance is directly proportional to EtX(-) concentration present in the sample solutions. The Beer`s law is obeyed in a 1 x 10(-6) to 2 x 10(-4) mol L(-1) concentration range of ethyl xanthate in the pulp with an excellent correlation coefficient (r = 0.999) and a detection limit of 3.1 x 10(-7) mol L(-1), corresponding to 38 mu g L. At flow rates of 200 mu L min(-1) of the donor stream and 100 mu L min(-1) of the acceptor channel a sampling rate of 15 injections per hour could be achieved with RSD < 2.3% (n = 10, 300 mu L injections of 1 x 10(-5) mol L(-1) EtX(-)). Two practical applications demonstrate the versatility of the FIA method: (i) evaluation the free EtX(-) concentration during a laboratory study of the EtX(-) adsorption capacity on pulverized sulfide ore (pyrite) and (ii) monitoring of EtX(-) at different stages (from starting load to washing effluents) of a flotation pilot plant processing a Cu-Zn sulfide ore. (C) 2010 Elsevier By. All rights reserved.