α-Synuclein Genetic Variants Predict Faster Motor Symptom Progression in Idiopathic Parkinson Disease

Currently, there are no reported genetic predictors of motor symptom progression in Parkinson’s disease (PD). In familial PD, disease severity is associated with higher α-synuclein (SNCA) expression levels, and in postmortem studies expression varies with SNCA genetic variants. Furthermore, SNCA is a well-known risk factor for PD occurrence. We recruited Parkinson’s patients from the communities of three central California counties to investigate the influence of SNCA genetic variants on motor symptom progression in idiopathic PD. We repeatedly assessed this cohort of patients over an average of 5.1 years for motor symptom changes employing the Unified Parkinson’s Disease Rating Scale (UPDRS). Of 363 population-based incident PD cases diagnosed less than 3 years from baseline assessment, 242 cases were successfully re-contacted and 233 were re-examined at least once. Of subjects lost to follow-up, 69% were due to death. Adjusting for covariates, risk of faster decline of motor function as measured by annual increase in motor UPDRS exam score was increased 4-fold in carriers of the REP1 263bp promoter variant (OR 4.03, 95%CI:1.57–10.4). Our data also suggest a contribution to increased risk by the G-allele for rs356165 (OR 1.66; 95%CI:0.96–2.88), and we observed a strong trend across categories when both genetic variants were considered (p for trend  = 0.002). Our population-based study has demonstrated that SNCA variants are strong predictors of faster motor decline in idiopathic PD. SNCA may be a promising target for therapies and may help identify patients who will benefit most from early interventions. This is the first study to link SNCA to motor symptom decline in a longitudinal progression study

GRAFT VERSUS HOST-DISEASE IN THE RAT - IA EXPRESSION ON TARGET TISSUES

Class II (Ia) antigens, in the rat encoded for in the RTlB subregion of the MHC, are potent stimulators of a Graft versus Host Reaction (GvHR) (1). However, the distribution pattern and quantity of Ia antigens expressed on host tissues during a GvHR have not yet been fully established

Tellurides from Sunrise Dam gold deposit, Yilgarn Craton, Western Australia: A new occurrence of nagyagite

© Springer The original publication can be found at www.springerlink.comThe complex Pb-Sb-Au tellurosulfide nagyágite is found together with eight tellurides (hessite, petzite, calaverite, altaite, tellurantimony (and Bi-bearing tellurantimony), melonite, tetradymite and an unnamed Au(Ag)-As-telluride) in sulfide-sulfosalt assemblages from late, high-grade veins (D4) and post-D4 veinlets in the world-class orogenic gold deposit at Sunrise Dam, Eastern Goldfields Province of the Archaean Yilgarn Craton, Western Australia. The composition of nagyágite at Sunrise Dam conforms to ideal stoichiometry, with negligible As content and Au/(Au+Te) ratio of 0.325 [i.e., (Pb4.84Sb1.10 As0.05)5.99S5.99(Au0.98 Te2.03)3.01]. The diverse mineralogy of the post-D4 veinlets, relative to the host veins, is attributed to small-scale reaction fronts established along zones of replacement at the polished section scale. The association of telluride assemblages and native gold is interpreted in terms of remobilization of ore components (including Ag, Sb, Te and Au) from the pre-existing assemblages, and their redeposition during subsequent tectonic events. The presence of nagyágite and Au-Ag tellurides in veins, in quantities that may be significant in economic terms, as well as the character of their breakdown products, have implications for ore processing and gold recovery, as well as for the genetic interpretation of the deposit. The strong structural control upon formation of the telluride-bearing assemblages at Sunrise Dam and the ability of these minerals to reflect changes in the local environment, contradicts the current view that these tellurides have a magmatic affiliation.Y.-H. Sung, C. L. Ciobanu, A. Pring, J. Brügger, W. Skinner, N. J. Cook and M. Nugu

Textures, paragenesis and wall-rock alteration of lode-gold deposits in the Charters Towers district, north Queensland: implications for the conditions of ore formation

Ore deposits of the Charters Towers Goldfield (CTGF) are mainly hosted by fault-fill veins. Extensional (∼8% of all veins) and stockwork-like (∼3%) veins are less common and of little economic significance. Crosscutting relationships and published structural and geochronological data indicate a Late Silurian to Early Devonian timing of gold mineralization, coincident with regional shortening (D4) and I-type magmatism. Paragenetic relationships, which are uniform in veins everywhere within the CTGF, suggest that vein formation commenced with the deposition of large volumes of buck quartz (stage I), followed by buck and comb quartz, and significant pyrite and arsenopyrite precipitation (stage II). Gold was introduced during stage III, after earlier sphalerite and coincident with galena and chalcopyrite. Narrow, discontinuous calcite veins of stage IV mark the waning of gold-related hydrothermal activity or a later unrelated episode. Ore zones within the veins are everywhere composed of comb and/or gray quartz, calcite and/or ankerite and bands or clusters of fractured pyrite that are spatially associated with galena, sphalerite or chalcopyrite. Low-grade or barren vein sections, on the other hand, are mainly composed of milky buck quartz with little evidence for modification, overprinting or interaction with later fluids. Gold-related hydrothermal wall-rock alteration is symmetrically zoned, displaying proximal sericite–ankerite and distal epidote–chlorite–hematite assemblages that may be taken to imply wall-rock interaction with near neutral fluids (pH 5–6). Isocon plots assuming immobile Al, P, Ti, Y and Zr consistently indicate As, K, Pb, S and Zn enrichment and Na, Si and Sr depletion in altered wall-rock specimens relative to the least altered rocks. Alteration assemblages, quartz textures, fault rocks and published fluid inclusion and stable isotope data imply that the veins were formed under conditions of episodic fluid overpressuring (∼0.9–3.8 kbar), at a depth of ∼7 km and a temperature of ∼310°C. The published fluid inclusion data also imply that gold precipitation may have been brought about by fluid mixing. However, physi- and chemisorption of gold complexes onto sulfide surfaces may have been important depositional processes and controls on gold enrichment at the millimeter to centimeter scale, given that most gold particles are attached to the surfaces of pyrite crystals of stage II or to etch-pits and fracture surfaces within the earlier pyrite

A genome-wide scan for preeclampsia in the Netherlands

Preeclampsia, hallmarked by de novo hypertension and proteinuria in pregnancy, has a familial tendency. Recently, a large Icelandic genome-wide scan provided evidence for a maternal susceptibility locus for preeclampsia on chromosome 2p13 which was confirmed by a genome scan from Australia and New Zealand (NZ). The current study reports on a genome-wide scan of Dutch affected sib-pair families. In total 67 Dutch affected sib-pair families, comprising at least two siblings with proteinuric preeclampsia, eclampsia or HELLP-syndrome, were typed for 293 polymorphic markers throughout the genome and linkage analysis was performed. The highest allele sharing lod score of 1.99 was seen on chromosome 12q at 109.5 cM. Two peaks overlapped in the same regions between the Dutch and Icelandic genome-wide scan at chromosome 3p and chromosome 15q. No overlap was seen on 2p. Re-analysis in 38 families without HELLP-syndrome (preeclampsia families) and 34 families with at least one sibling with HELLP syndrome (HELLP families), revealed two peaks with suggestive evidence for linkage in the non-HELLP families on chromosome 10q (lod score 2.38, D10S1432, 93.9 cM) and 22q (lod score 2.41, D22S685, 32.4 cM). The peak on 12q appeared to be associated with HELLP syndrome; it increased to a lod score of 2.1 in the HELLP families and almost disappeared in the preeclampsia families. A nominal peak on chromosome 11 in the preeclampsia families showed overlap with the second highest peak in the Australian/NZ study. Results from our Dutch genome-wide scan indicate that HELLP syndrome might have a different genetic background than preeclampsia.Augusta MA Lachmeijer, Reynir Arngrímsson, Esther J Bastiaans, Michael L Frigge, Gerald Pals, Sigrun Sigurdardóttir, Hreinn Stéfansson, Birgir Pálsson, Dan Nicolae, Augustin Kong, Jan G Aarnoudse, Jeff R Gulcher, Guustaaf A Dekker, Leo P ten Kate and Kári Stéfansso

The development of volcanic hosted massive sulfide and barite–gold orebodies on Wetar Island, Indonesia

Wetar Island is composed of Neogene volcanic rocks and minor oceanic sediments and forms part of the Inner Banda Arc. The island preserves precious metal-rich volcanogenic massive sulfide and barite deposits, which produced approximately 17 metric tonnes of gold. The polymetallic massive sulfides are dominantly pyrite (locally arsenian), with minor chalcopyrite which are cut by late fractures infilled with covellite, chalcocite, tennantite–tetrahedrite, enargite, bornite and Fe-poor sphalerite. Barite orebodies are developed on the flanks and locally overly the massive sulfides. These orebodies comprise friable barite and minor sulfides, cemented by a series of complex arsenates, oxides, hydroxides and sulfate, with gold present as <10 lm free grains. Linear and pipe-like structures comprising barite and ironoxides beneath the barite deposits are interpreted as feeder structures to the barite mineralization. Hydrothermal alteration around the orebodies is zoned and dominated by illite–kaolinite–smectite assemblages; however, local alunite and pyrophyllite are indicative of late acidic, oxidizing hydrothermal fluids proximal to mineralization. Altered footwall volcanic rocks give an illite K–Ar age of 4.7±0.16 Ma and a 40Ar/39Ar age of 4.93±0.21 Ma. Fluid inclusion data suggest that hydrothermal fluid temperatures were around 250–270C, showed no evidence of boiling, with a mean salinity of 3.2 wt% equivalent NaCl. The d34S composition of sulfides ranges between +3.3& and +11.7& and suggests a significant contribution of sulfur from the underlying volcanic edifice. The d34S barite data vary between +22.4& and +31.0&, close to Miocene seawater sulfate. Whole rock 87Sr/86Sr analyses of unaltered volcanic rocks (0.70748–0.71106) reflect contributions from subducted continental material in their source region. The 87Sr/86Sr barite data (0.7076–0.7088) indicate a dominant Miocene seawater component to the hydrothermal system. The mineral deposits formed on the flanks of a volcanic edifice at depths of ~2 km. Spectacular sulfide mounds showing talus textures are localized onto faults, which provided the main pathways for high-temperature hydrothermal fluids and the development of associated stockworks. The orebodies were covered and preserved by post-mineralization chert, gypsum, Globigerina-bearing limestone, lahars, subaqueous debris flows and pyroclastics rocks