Role of UCP1 gene variants in interethnic differences in the development of cardio-metabolic diseases

Cardio-metabolic diseases (CMDs) comprise a cluster of risk factors that contribute to chronic pathological conditions with adverse consequences for cardiovascular function and metabolic processes. A wide range of CMD prevalence rates among different ethnic groups has been documented. In view of accumulated evidence, there is a trend toward increasing CMD prevalence rates in Eastern Europe and Western Asia. Numerous studies have revealed an association between uncoupling protein 1 (UCP1) gene variants and CMDs. UCP1 activity is essential for brown adipose tissue (BAT)-mediated thermogenesis. Experimental animal studies and epidemiological studies in humans highlight the significance of BAT-mediated thermogenesis in protecting against obesity and maintaining a lean phenotype. We hypothesize that the genetic variation in UCP1 gene expression observed among different ethnic groups could contribute to the ethnic-specific predisposition to CMD development. Constructing such prevalence maps of UCP1 gene variants could contribute significantly into identifying high-risk ethnic groups predisposed to the development of CMDs, and further shaping public health policies by the improvement of existing preventive and management strategies

Marine Investigations of Greece\u27s Santorini Volcanic Field

The most recent major explosive eruption of the Santorini volcano in Greece—around 3600 years before present (B.P.), often referred to as the Minoan eruption—is one of the largest volcanic events known in historical time and has been the subject of intense volcanological and archeological studies [Druitt et al., 1999]. The submarine volcano Kolumbo, located seven kilometers northeast of Santorini and associated with Santorini\u27s tectonic system, erupted explosively in 1650 A.D., resulting in fatalities on the island of Thera [Fouqué, 1879]. A large fraction of the erupted products from the Minoan eruption has been deposited in the sea but, up to now, only has been studied in distal marine sediments. As part of a collaborative project between the University of Rhode Island (Narragansett), the Hellenic Centre of Marine Research (Athens, Greece), and the Institute of Geology and Mineral Exploration (Athens), a marine geological survey was conducted around Santorini from April to June 2006. he new work now shows that the volume of the Minoan eruption may be comparable to that of the largest known historical eruption, the 1815 eruption of Tambora in Indonesia [Sigurdsson and Carey, 1989]; provides insights into the depositional processes and size of the Minoan eruption; and led to the discovery of important submarine hydrothermal vents with active mineralization

Chronic l-menthol-induced browning of white adipose tissue hypothesis: A putative therapeutic regime for combating obesity and improving metabolic health

Obesity constitutes a serious global health concern reaching pandemic prevalence rates. The existence of functional brown adipose tissue (BAT) in adult humans has provoked intense research interest in the role of this metabolically active tissue in whole-body energy balance and body weight regulation. A number of environmental, physiological, pathological, and pharmacological stimuli have been proposed to induce BAT-mediated thermogenesis and functional thermogenic BAT-like activity in white adipose tissue (WAT), opening new avenues for therapeutic strategies based on enhancing the number of beige adipocytes in WAT

Molecular investigation of facioscapulojumeral muscular dystrophy

Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common neuromuscular disorders. It is inherited as an autosomal dominant trait and is characterized by progressive weakness of muscles in the face, shoulder girdle and upper arms, eventually, spreading to the abdominal and foot extensor muscles in most cases. In 95% of cases FSHD is associated with contractions of tandem repeats (D4Z4) on chromosomal region 4q35. Until 1994, the diagnosis was made only on a clinical basis (e.g. clinical features, medical history and muscle biopsy), resulting occasionally in differential diagnosis. Genetic confirmation of the disease is based solely on southern blotting analysis using a specific probe p13E11, which recognizes contractions of the D4Z4 repeats. This study presents the clinical and molecular data of 133 individuals with FSHD from 71 unrelated Greek families. A revised Clinical Severity Score (rCSS) index was developed and applied in order to evaluate the degree of clinical severity of the FSHD patients participated in the study. A high ratio (31/62, 50%) of probands’ family members was found to be asymptomatic or minimally affected carriers of a contracted 4q allele. Moreover, clinical expression was gender dependent, and a significant statistical difference was found between the mean height values of symptomatic individuals and those in the general population. Remarkable was the phenotypic discordance for FSHD in a pair of female monozygotic twins. Several lines of evidence support the existence of founder effect in two Greek regions. This is the first survey that provides evidence supporting a possible role of epigenetic factors in the development and progression of the disease, and the speculation that the prevalence of FSHD is underestimated in families originated from an Eastern Mediterranean country (Greece), while most studies performed so far concern populations with origins in America, Asia and Northern EuropeΗ πρόσωπο-ώμο-βραχιόνιος μυϊκή δυστροφία (Facioscapulohumeral Muscular Dystrophy, FSHD) είναι από τα πιο συχνά νευρομυϊκά νοσήματα. Κληρονομείται με αυτοσωμικό επικρατητικό τρόπο και χαρακτηρίζεται από προοδευτική αδυναμία των μυών του προσώπου της ωμικής ζώνης και των άνω άκρων, με την αδυναμία σε αρκετές περιπτώσεις να προσβάλει και άλλες ομάδες σκελετικών μυών (π.χ. πυελικής ζώνης, κάτω άκρων). Στην πλειονότητα των περιπτώσεων (95%) το νόσημα οφείλεται σε ελλείψεις επαναλαμβανόμενων περιοχών (D4Z4) της χρωμοσωμικής περιοχής 4q35. Μέχρι το 1994 η διάγνωση στηριζόταν σε συμβατικές μεθόδους προσέγγισης (π.χ. κλινική εικόνα, ιστορικό και βιοψία μυός) που όμως έδιναν σε αρκετές περιπτώσεις διαφορική διάγνωση. Η επιβεβαίωση της νόσου σήμερα γίνεται μόνο με μοριακή ανάλυση DNA και αποκλειστικά με την τεχνική southern blotting με τον ειδικό γενωμικό ανιχνευτή p13Ε-11 (D4F104S1), όπου ανιχνεύονται μεγάλες ελλείψεις στην περιοχή 4q35. Η παρούσα μελέτη αποτελεί συστηματική προσπάθεια διερεύνησης, τόσο σε κλινικό όσο και σε μοριακό επίπεδο, 133 ασθενών με νόσο FSHD από 71 μη-συγγενικές οικογένειες στον Ελλαδικό χώρο. Η εφαρμογή ενός δείκτη κλινικής βαρύτητας βάσει του ρυθμού εξέλιξης της νόσου FSHD (revised Clinical Severity Score, rCSS index) συνέβαλε στην αντικειμενική κλινική αξιολόγηση των ασθενών. Παρατηρήθηκε υψηλό ποσοστό (31/62, 50%) ασυμπτωματικών ή ήπια προσβεβλημένων φορέων της μοριακής διαταραχής ανάμεσα στους συγγενείς των ασθενών. Επίσης καταγράφηκαν διαφορές στην εκδήλωση του φαινοτύπου ανάλογα με το φύλο καθώς επίσης διαπιστώθηκε και στατιστικά σημαντική διαφορά στο ύψος των ατόμων που φέρουν μετάλλαξη και νοσούν σε σύγκριση με το γενικό πληθυσμό. Αξιοσημείωτη είναι η έντονη διαφοροποίηση των κλινικών εκδηλώσεων της νόσου ανάμεσα σε μια περίπτωση μονοζυγωτικών (ΜΖ) θήλεων διδύμων. Πλήθος ενδείξεων υποστηρίζουν την ύπαρξη του «φαινομένου ιδρυτή» σε δύο περιοχές του Ελλαδικού χώρου. Η παρούσα μελέτη παρέχει για πρώτη φορά δεδομένα οικογενειών με νόσο FSHD υποστηρίζοντας τον πιθανό ρόλο επίκτητων παραγόντων για την εκδήλωση και την εξέλιξη της νόσου, και την πιθανή υποεκτίμηση της συχνότητας της νόσου σε χώρα της Ανατολικής Μεσογείου (Ελλάδα) καθώς οι περισσότερες μελέτες αφορούν πληθυσμούς της Αμερικής, Ασίας και Βόρειας Ευρώπης

Submarine evidence of a debris avalanche deposit on the eastern slope of Santorini volcano, Greece

Hummocky seafloor features were discovered on the eastern flank of Santorini volcano, Greece. Multibeam bathymetric mapping, airgun seismic profiling, side scan sonar survey, and remotely operated vehicle (ROV) dives have been carried out to characterize the nature of the hummocks. These hummocks appear to be composed of several tens of blocks that are up to several hundredmeters in diameter, and are the surface expression of amuch larger deposit than is observed in the bathymetry. The sidescan and airgun data show that the deposit covers an area of approximately 6 km wide by 20 km long, and is up to 75 mthick.We estimate the total volume of the deposit to be approximately 4.4×109 m3. Sampling of these blocks show they are composed of pyroclastic flowdeposits produced during theMinoan eruption of Santorini (ca. 3600 BP).Wepropose that the deposit is the result of a multi-stage landslide event that was caused by one of the several large earthquakes or volcanic eruptions that have occurred in the vicinity of Santorini since theMinoan eruption. One ormore of these events likely triggered the destabilization of a part of the eastern flank of Santorini,which led to a debris avalanche, depositing blocks and forming a hummocky terrain at the base of the island\u27s slope. Themassmovement later evolved into a turbulent suspension flow that traveled 20 km or more from the presumed initial failure. Given the size of the landslide deposit, it might have a tsunami potentially affecting the islands across the southern Aegean Sea. The understanding of earthquake-landslide dynamics has important implications for hazard assessment in this seismically active, historical, and highly populated region of the world. © 2012 Elsevier B.V

Tsunami triggering mechanisms associated with the 17th cent. BC Minoan eruption of thera Volcano, Greece

Systematic seismic profiling and swath bathymetry of the seafloor around Santorini volcanic field, including the caldera, shed light to the structure and seismic stratigraphy of the accumulated volcanic deposits and the mechanisms which may have led to the generation of one or multiple tsunamis during the Minoan eruption. We propose that tsunamis may have been triggered by two distinct processes associated with the Minoan eruption: (i) Massive pyroclastic flows entering the ocean around the islands of Santorini. The total volume of the pyroclastic flow deposits on the seafloor around Santorini is about 54.5 km3. (ii) The collapse of the Minoan volcanic edifice below the sea-level created new space of minimum volume 4.5-5 km3 between the sea-level and the 200m depth contour. The total volume created may exceeded 10 km3. Copyright © 2012 by the International Society of Offshore and Polar Engineers (ISOPE)