Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG

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A novel dendrimeric "glue" for adhesion of phosphatidyl choline-based liposomes

The interaction of phosphatidyl choline-cholesterol liposomes incorporating dihexadecyl phosphate as recognizable lipid with complementary guanidinylated diaminobutane poly(propylene imine) dendrimers of the fourth and fifth generation afforded liposome-dendrimer aggregates which were redispersed by the addition of an excess of a phosphate buffer. The higher generation dendrimeric derivative proved more effective when interacted with liposomes. This behavior was attributed to multivalent effects, which, as generally established, enhance the reactivity of multifunctional particles. Turbidimetry, atomic force microscopy (AFM) and optical microscopy were used for investigating the interaction of the complementary particles while the redispersion of the aggregates was studied by transmission electron microscopy (TEM). Liposomal membrane stability in the collapse and redispersion processes was assessed by the calcein fluorescence method, TEM, and AFM

Mild myopathic phenotype in a patient with homozygous c.416C > T mutation in TK2 gene

The mitochondrial DNA depletion syndrome (MDDS) is characterized by extensive phenotypic variability and is due to nuclear gene mutations resulting in reduced mtDNA copy number. Thymidine kinase 2 (TK2) mutations are well known to be associated with MDDS. Few severely affected cases carrying the c.416C > T mutation in TK2 gene have been described so far. We describe the case of a 14months boy with the aforementioned TK2 gene pathogenic mutation at a homozygous state, presenting with a mild clinical phenotype. In addition to severe mitochondrial pathology on muscle biopsy, there was also histochemical evidence of adenylate deaminase deficiency. Overall, this report serves to further expand the clinical spectrum of TK2 mutations associated with MDDS. © Gaetano Conte Academy - Mediterranean Society of Myolog

Association of oestrogen receptor alpha polymorphisms and androgen receptor CAG trinucleotide repeats with male infertility: a study in 109 Greek infertile men

This study was performed to examine the contribution of genetic polymorphism of oestrogen and androgen receptor (AR) genes in male infertility. We have studied in total 173 Greek men, 109 infertile patients and 64 controls (group A). Patients were divided in to three subgroups: group B (n =29) with idiopathic moderate oligospermia, group C (n =42) with azoospermia or idiopathic severe oligospermia and group D (n =38) with azoospermia or oligospermia of various known aetiologies. All patients and controls were genotyped for two polymorphisms of the oestrogen receptor alpha (ERalpha) gene and also for the (CAG)n repeat length polymorphism of the X-linked androgen receptor (AR)gene. The control group had statistically significant difference from group C regarding the XbaI polymorphism of ERalpha gene. Despite the fact that we did not observe any statistically significant differences in the mean and range of the CAG repeat number, the frequency of the higher repeats of the nucleotide repeat sequence (CAG)n of the AR gene was 2-4 times higher in groups B and C compared with the control group A. Our results indicate that both ERalpha and AR gene play significant role in male fertility. It is possible that a synergy may exist between unfavourable genotypes of these two genes in male infertility

Global Modelling of the Oceanic Source of Organic Aerosols

The global marine organic aerosol budget is investigated by a 3-dimensional chemistry-transport model considering recently proposed parameterisations of the primary marine organic aerosol (POA) and secondary organic aerosol (SOA) formation from the oxidation of marine volatile organic compounds. MODIS and SeaWiFS satellite data of Chlorophyll-a and ECMWF solar incoming radiation, wind speed, and temperature are driving the oceanic emissions in the model. Based on the adopted parameterisations, the SOA and the submicron POA marine sources are evaluated at about 5 Tg yr-1 (~1.5 Tg C yr-1) and 7 to 8 Tg yr-1 (~4 Tg C yr-1), respectively. The computed marine SOA originates from the dimethylsulfide oxidation (~78%), the potentially formed dialkyl amine salts (~21%), and marine hydrocarbon oxidation (~0.1%). Comparison of calculations with observations indicates an additional marine source of soluble organic carbon that could be partially encountered by marine POA chemical ageing.JRC.DDG.H.2-Climate chang