Crystallographic preferred orientations of exhumed subduction channel rocks from the Eclogite Zone of the Tauern Window (Eastern Alps, Austria), and implications on rock elastic anisotropies at great depths

Highlights • Analysis of crystallographic preferred orientations of high-pressure polymineralic rocks by time-of-flight neutron diffraction • Elastic properties of a complete set of subduction channel rocks calculated from their crystallographic preferred orientation • Vp/Vs ratio and P-wave anisotropy of eclogites and metasediments • Influence of eclogite retrogression during exhumation on their elastic properties • Evaluation of the seismic signature of both clastic and carbonate sediments in subduction channels Abstract Crystallographic preferred orientations (CPO) of rocks from an exhumed subduction channel of the Alpine orogen were determined using time-of-flight neutron diffraction. This method allows the investigation of large polymineralic samples and, more importantly, the application of full pattern fit methods to constrain CPOs of mineralogically complex rocks. Samples studied include intensely deformed fresh and retrogressed eclogites, as well as metasediments, which are interleaved with the eclogites in the subduction channel. From the CPO, seismic properties of the samples were calculated. P- wave anisotropies of the eclogite samples are fairly low, with an average of about 1.5%, and mainly constrained by pronounced omphacite CPO. Growth and deformation of retrograde amphibole in the eclogites also led to a pronounced CPO, which has a large impact on seismic anisotropies by raising them to up to 3.7% and changing the orientations of velocity maxima. Elastic anisotropies of the subducted metasediments are higher (up to 7.4%) and constrained by quartz and mica CPO in clastics and by calcite CPO in marble. VP/VS ratios may help to distinguish fresh eclogites from retrogressed ones, and both rock types from mantle peridotites of downgoing lithospheric slabs in seismic imaging. Our data also indicate that subducted terrigenous sediments are not only strongly anisotropic, but also have low VP/VS ratios. This way there may be potential to image them by seismic tomography at depth in active subduction channels

Inflammatory response gene polymorphisms and their relationship with colorectal cancer risk

<p>Abstract</p> <p>Backgroud</p> <p>Patients with chronic inflammatory bowel disease (IBD) are at an increased risk of colorectal cancer (CRC) and it is estimated that one in six persons diagnosed with IBD will develop CRC. This fact suggests that genetic variations in inflammatory response genes may act as CRC disease risk modifiers.</p> <p>Methods</p> <p>In order to test this hypothesis we investigated a series of polymorphisms in 6 genes (NOD2, DLG5, OCTN1, OCTN2, IL4, TNFα) associated with the inflammatory response on a group of 607 consecutive newly diagnosed colorectal cancer patients and compared the results to controls (350 consecutive newborns and 607 age, sex and geographically matched controls).</p> <p>Results</p> <p>Of the six genes only one polymorphism in TNFα(-1031T/T) showed any tendency to be associated with disease risk (64.9% for controls and 71.4% for CRC) which we further characterized on a larger cohort of CRC patients and found a more profound relationship between the TNFα -1031T/T genotype and disease (64.5% for controls vs 74.7% for CRC cases above 70 yrs). Then, we investigated this result and identified a suggestive tendency, linking the TNFα -1031T/T genotype and a previously identified change in the CARD15/NOD2 gene (OR = 1.87; p = 0,02 for CRC cases above 60 yrs).</p> <p>Conclusion</p> <p>The association of polymorphisms in genes involved in the inflammatory response and CRC onset suggest that there are genetic changes capable of influencing disease risk in older persons.</p

Deep structure of the Ionian Sea and Sicily Dionysus - Cruise No. M111, October 10 - November 1, 2014, Catania (Italy) – Catania (Italy)

Summary The origin of the Ionian Sea lithosphere and the deep structure of its margins remain a little investigated part of the Mediterranean Sea. To shed light on the plate tectonic setting in this central part of southern Europe, R/V METEOR cruise M111 set out to acquire deep penetrating seismic data in the Ionian Sea. M111 formed the core of an amphibious investigation covering the Ionian Sea and island of Sicily. A total of 153 OBS/OBH deployments using French and German instruments were successfully carried out, in addition to 12 land stations installed on Sicily, which recorded the offshore air gun shots. The aim of this onshore-offshore study is to quantify the deep geometry and architecture of the Calabria subduction zone and Ionian Sea lithosphere and to shed light on the nature of the Ionian Sea crust (oceanic crust vs. thinned continental crust). Investigating the structure of the Ionian crust and lithospheric mantle will contribute to unravel the unknown ocean-continent transition and Tethys margin. Analyzing the tectonic activity and active deformation zones is essential for understanding the subduction processes that underlie the neotectonics of the Calabrian subduction zone and earthquake hazard of the Calabria/Sicily region, especially in the vicinity of local decoupling zones

hMSH2 is the most commonly mutated MMR gene in a cohort of Greek HNPCC patients

Germline mutations in genes encoding proteins involved in DNA mismatch repair are responsible for the autosomal dominantly inherited cancer predisposition syndrome hereditary nonpolyposis colorectal cancer (HNPCC). We describe here analysis of hMLH1 and hMSH2 in nine Greek families referred to our centre for HNPCC. A unique disease-causing mutation has been identified in seven out of nine (78%) families. The types of mutations identified are nonsense (five out of seven) (hMLH1: E557X, R226X; hMSH2: Q158X, R359X and R711X), a 2 bp deletion (hMSH2 1704_1705delAG) and a 2.2 kb Alu-mediated deletion encompassing exon 3 of the hMSH2 gene. The majority of mutations identified in this cohort are found in hMSH2 (77.7%). Furthermore, four of the mutations identified are novel. Finally, a number of novel benign variations were observed in both genes. This is the first report of HNPCC analysis in the Greek population, further underscoring the differences observed in the various geographic populations

Common NOD2/CARD15 variants are not associated with susceptibility or the clinicopathologic characteristics of sporadic colorectal cancer in Hungarian patients

BACKGROUND: Epidemiological observations suggest that cancer arises from chronically inflamed tissues. Inflammatory bowel disease (IBD) is a typical example as patients with longstanding IBD are at an increased risk for developing colorectal cancer (CRC) and mutations of the NOD2/CARD15 gene increase the risk for Crohn's disease (CD). Recently, NOD2/CARD15 has been associated with a risk for CRC in some studies, which stemmed from ethnically diverse populations. Our aim was to identify common NOD2/CARD15 mutations in Hungarian patients with sporadic CRC. METHODS: A total of 194 sporadic CRC patients (m/f: 108/86, age at diagnosis of CRC: 63.2 ± 9.1 years old) and 200 healthy subjects were included. DNA was screened for SNP8, SNP12 and SNP13 NOD2/CARD15 mutations by denaturing-HPLC and confirmed by direct sequencing. RESULTS: NOD2/CARD15 mutations were found in 28 patients (14.4%) and in 23 controls (11.5%, p = NS). Allele frequencies for SNP8/R702W (1.8% vs. 1.5%) SNP12/G908R (1.8% vs. 1.8%) and SNP13/3020insC (3.6% vs. 2.5%) were also not statistically different between patients and controls. The clinicopathologic characteristics of CRC patients with or without NOD2/CARD15 mutations were not significantly different. CONCLUSION: Our results suggest that common NOD2/CARD15 mutations alone do not contribute to CRC risk in the Hungarian population

Partial loss of heterozygosity events at the mutated gene in tumors from MLH1/MSH2 large genomic rearrangement carriers

<p>Abstract</p> <p>Background</p> <p>Depending on the population studied, large genomic rearrangements (LGRs) of the mismatch repair (<it>MMR</it>) genes constitute various proportions of the germline mutations that predispose to hereditary non-polyposis colorectal cancer (HNPCC). It has been reported that loss of heterozygosity (LOH) at the LGR region occurs through a gene conversion mechanism in tumors from <it>MLH1</it>/<it>MSH2 </it>deletion carriers; however, the converted tracts were delineated only by extragenic microsatellite markers. We sought to determine the frequency of LGRs in Slovak HNPCC patients and to study LOH in tumors from LGR carriers at the LGR region, as well as at other heterozygous markers within the gene to more precisely define conversion tracts.</p> <p>Methods</p> <p>The main <it>MMR </it>genes responsible for HNPCC, <it>MLH1</it>, <it>MSH2</it>, <it>MSH6</it>, and <it>PMS2</it>, were analyzed by MLPA (multiplex ligation-dependent probe amplification) in a total of 37 unrelated HNPCC-suspected patients whose <it>MLH1/MSH2 </it>genes gave negative results in previous sequencing experiments. An LOH study was performed on six tumors from LGR carriers by combining MLPA to assess LOH at LGR regions and sequencing to examine LOH at 28 SNP markers from the <it>MLH1 </it>and <it>MSH2 </it>genes.</p> <p>Results</p> <p>We found six rearrangements in the <it>MSH2 </it>gene (five deletions and dup5-6), and one aberration in the <it>MLH1 </it>gene (del5-6). The <it>MSH2 </it>deletions were of three types (del1, del1-3, del1-7). We detected LOH at the LGR region in the single <it>MLH1 </it>case, which was determined in a previous study to be LOH-negative in the intragenic D3S1611 marker. Three tumors displayed LOH of at least one SNP marker, including two cases that were LOH-negative at the LGR region.</p> <p>Conclusion</p> <p>LGRs accounted for 25% of germline <it>MMR </it>mutations identified in 28 Slovakian HNPCC families. A high frequency of LGRs among the <it>MSH2 </it>mutations provides a rationale for a MLPA screening of the Slovakian HNPCC families prior scanning by DNA sequencing. LOH at part of the informative loci confined to the <it>MLH1 </it>or <it>MSH2 </it>gene (heterozygous LGR region, SNP, or microsatellite) is a novel finding and can be regarded as a partial LOH. The conversion begins within the gene, and the details of conversion tracts are discussed for each case.</p