University of Cagliari

About: University of Cagliari is a education organization based out in Cagliari, Italy. It is known for research contribution in the topics: Population & Dopamine. The organization has 11029 authors who have published 29046 publications receiving 771023 citations. The organization is also known as: Università degli Studi di Cagliari & Universita degli Studi di Cagliari.

Labile organic matter and microbial biomasses in deep-sea sediments (Eastern Mediterranean Sea)

Abstract: The distribution and the biochemical composition of organic matter were analysed in surface sediments (0–15 cm) of 22 continental and bathyal stations (110–2401 m; Ionian and Aegean Seas). Variations of labile organic matter (LOM), total organic matter (TOM), bacterial density and biomass were related to the benthic bacterial populations and to the environmental conditions. TOM was significantly correlated with water depth, but not with LOM, which was mostly composed of carbohydrates (89.6) followed by proteins and lipids (5.4 and 5.0.%). LOM ranged between 1.5 adn 2.7 mg g −1 sediment dry weight, declining in concentration from the sediment surface of 15 cm depth. Bacterial counts ranged betweem 0.16 and 9.42 × 10 8 cells g t-1 sediment dry weight. Bacterial density and biomasses in surface sediments (0–1 cm) were significantly correlated with carbohydrates and DNA concentrations. Although the overlying waters are oligotrophic and low concentrations of TOM are present, the relatively high percentage of LOM and bacterial density suggest that organic matter in deep-sea sediments of the Eastern Mediterranean Sea is not totally depleted of nutritional value.

Mutation of the angiopoietin-1 gene (ANGPT1) associates with a new type of hereditary angioedema

Abstract: Background Hereditary angioedema (HAE) is a rare genetic disease usually caused by mutation in the C1 inhibitor or the coagulation Factor XII gene. However, in a series of patients with HAE, no causative variants have been described, and the pathophysiology of the disease remains unknown (hereditary angioedema with yet unknown genetic defect [U-HAE]). Identification of causative genes in patients with U-HAE is valuable for understanding the cause of the disease. Objective We conducted genetic studies in Italian patients with U-HAE to identify novel causative genes. Methods Among patients belonging to 10 independent families and unrelated index patients with U-HAE recruited from the Italian Network for C1-INH-HAE (ITACA), we selected a large multiplex family with U-HAE and performed whole-exome sequencing. The angiopoietin-1 gene (ANGPT1) was investigated in all patients with familial or sporadic U-HAE. The effect of ANGPT1 variants was investigated by using in silico prediction and plasma and transfected cells from both patients and control subjects. Results We identified a missense mutation ( ANGPT1 , c.807G>T, p.A119S) in a family with U-HAE. The ANGPT1 p.A119S variant was detected in all members of the index family with U-HAE but not in asymptomatic family members or an additional 20 patients with familial U-HAE, 22 patients with sporadic U-HAE, and 200 control subjects. Protein analysis of the plasma of patients revealed a reduction of multimeric forms and a reduced ability to bind the natural receptor tunica interna endothelial cell kinase 2 of the ANGPT1 p.A119S variant. The recombinant mutated ANGPT1 p.A119S formed a reduced amount of multimers and showed reduced binding capability to its receptor. Conclusion ANGPT1 impairment is associated with angioedema, and ANGPT1 variants can be the basis of HAE.

Clinicopathological features of genetically confirmed Danon disease

Abstract: Background : Danon disease is due to primary deficiency of lysosome-associated membrane protein-2. Objective : To define the clinicopathologic features of Danon disease. Methods : The features of 20 affected men and 18 affected women in 13 families with genetically confirmed Danon disease were reviewed. Results : All patients had cardiomyopathy, 18 of 20 male patients (90%) and 6 of 18 female patients (33%) had skeletal myopathy, and 14 of 20 male patients (70%) and one of 18 female patients (6%) had mental retardation. Men were affected before age 20 years whereas most affected women developed cardiomyopathy in adulthood. Muscle histology revealed basophilic vacuoles that contain acid phosphatase–positive material within membranes that lack lysosome-associated membrane protein-2. Heart transplantation is the most effective treatment for the otherwise lethal cardiomyopathy. Conclusions : Danon disease is an X-linked dominant multisystem disorder affecting predominantly cardiac and skeletal muscles.