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Mezzavilla M.,University of Trieste | Iorio A.,University of Trieste | Bobbo M.,University of Trieste | D'Eustacchio A.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | And 4 more authors.
Gene | Year: 2014

Background: Recent studies suggested that resting heart rate (RHR) might be an independent predictor of cardiovascular mortality and morbidity. Nonetheless, the interrelation between RHR and cardiovascular diseases is not clear. In order to resolve this puzzle, the importance of genetic determinants of RHR has been recently suggested, but it needs to be further investigated. Objective: The aim of this study was to estimate the contribution of common genetic variations on RHR using Genome Wide Association Study. Methods: We performed a Genome Wide Association Study in an isolated population cohort of 1737 individuals, the Italian Network on Genetic Isolates - Friuli Venezia Giulia (INGI-FVG). Moreover, a haplotype analysis was performed. A regression tree analysis was run to highlight the effect of each haplotype combination on the phenotype. Results: A significant level of association (p<5×10-8) was detected for Single Nucleotide Polymorphisms (SNPs) in two genes expressed in the heart: MAML1 and CANX. Founding that the three different variants of the haplotype, which encompass both genes, yielded a phenotypic correlation. Indeed, a haplotype in homozygosity is significantly associated with the lower quartile of RHR (RHR≤58bpm). Moreover no significant association was found between cardiovascular risk factors and the different haplotype combinations. Conclusion: Mastermind-like 1 and Calnexin were found to be associated with RHR. We demonstrated a relation between a haplotype and the lower quartile of RHR in our populations. Our findings highlight that genetic determinants of RHR may be implicated in determining cardiovascular diseases and could allow a better risk stratification. © 2014 Elsevier B.V. Source


Faletra F.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | D'Adamo A.P.,University of Trieste | Bruno I.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | Athanasakis E.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | And 4 more authors.
American Journal of Medical Genetics, Part A | Year: 2014

Stickler syndrome (STL) is a clinically variable and genetically heterogeneous syndrome characterized by ophthalmic, articular, orofacial, and auditory manifestations. STL has been described with both autosomal dominant and recessive inheritance. The dominant form is caused by mutations of COL2A1 (STL 1, OMIM 108300), COL11A1 (STL 2, OMIM 604841), and COL11A2 (STL 3, OMIM 184840) genes, while recessive forms have been associated with mutations of COL9A1 (OMIM 120210) and COL9A2 (OMIM 120260) genes. Type IX collagen is a heterotrimeric molecule formed by three genetically distinct chains: α1, α2, and α3 encoded by the COL9A1, COL9A2, and COL9A3 genes. Up to this time, only heterozygous mutations of COL9A3 gene have been reported in human and related to: (1) multiple epiphyseal dysplasia type 3, (2) susceptibility to an intervertebral disc disease, and (3) hearing loss. Here, we describe the first autosomal recessive Stickler family due to loss of function mutations (c.1176_1198del, p.Gln393Cysfs*25) of COL9A3 gene. These findings extend further the role of collagen genes family in the disease pathogenesis. © 2013 Wiley Periodicals, Inc. Source


Marcuzzi A.,University of Trieste | Tommasini A.,University of Trieste | Tommasini A.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | Crovella S.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | And 2 more authors.
International Immunopharmacology | Year: 2010

The inhibition of mevalonate pathway through genetic defects (mevalonate kinase deficiency, MKD) or pharmacologic drugs (aminobisphosphonates) causes a shortage of intermediate compounds and, in particular, of geranylgeranyl-pyrophosphate (GGPP) associated to the activation of caspase-1 and IL-1β release. Geraniol (GOH), farnesol (FOH), geranylgeraniol (GGOH) and menthol (MOH), due to their isoprenoid structure, are supposed to enter the mevalonate pathway and to by-pass the biochemical block, reconstituting the pathway. Considering the already known side effects of aminobisphosphonates, and the lack of a specific treatment for MKD, we evaluated the impact of these natural isoprenoids compounds in a RAW cell lines chemically treated with the aminobisphosphonate alendronate, and in monocytes isolated from 2 patients affected by MKD. GOH, FOH, GGOH and MOH were all capable to diminish inflammatory marker levels induced by LPS. These natural isoprenoids could be proposed as novel therapeutic approach for the still orphan drug MKD, but also considered for the evaluation of possible inflammatory side effects of aminobisphosphonates. © 2010 Elsevier B.V. All rights reserved. Source


Comar M.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | Comar M.,University of Trieste | Delbue S.,University of Milan | Zanotta N.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | And 7 more authors.
Pediatric Blood and Cancer | Year: 2014

Background: Multipotent stromal cells are present in the Wharton's jelly matrix (WJSC) of the umbilical cord and can be used as an allogeneic source of cells to treat immunological disorders. Recently it was demonstrated that adult bone marrow (BM)-derived mesenchimal stromal cells (MSC) are susceptible to infection with viruses showing potential oncogenic properties, such as the polyomavirus JC (JCV). The aim of this study was to investigate the presence of human polyomaviruses (JCV, BK Virus-BKV, SV40, and Merkel cell polyomavirus-MCPyV) in WJSC, and explore the risk of infection. Procedure: MSC samples from 35 umbilical cords were investigated by quantitative Real Time PCRs for the presence of DNA sequences of JCV, BKV, SV40, and MCPyV. Results: JCV DNA was detected in 1/35 (2.8%) of MSC samples, while SV40 DNA was found in 3/35 (8.6%) of the examined samples. None of the samples showed sequences of BKV and MCPyV. Conclusions: The present study demonstrates the in vivo ability of polyomaviruses to infect WJSC. Since the therapeutic approach with the WJSC has high potentiality and a more intensive use can be easily hypothesized, the need to develop consensus guidelines to detect rare viral infections in MSC is pressing. © 2014 Wiley Periodicals, Inc. Source


Mezzavilla M.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | Mezzavilla M.,University of Trieste | Ulivi S.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | Bianca M.L.,Institute for Maternal and Child Health IRCCS Burlo Garofolo Trieste | And 4 more authors.
Psychiatry Research | Year: 2015

In this study we explored the possible association between 36,915 functional variants and alexithymia, a personality trait characterized by the inability to identify and describe emotions and feelings. From our analysis, variants in the genes ABCB4, TP53AIP1, ARHGAP32 and TMEM88B were identified linked to the alexithymia phenotype. © 2015 Elsevier Ireland Ltd. Source

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