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Benga G.,First Laboratory for Genetic Explorations | Benga G.,Vasile Goldis Western University of Arad | Benga G.,Romanian Academy of Sciences
Acta Endocrinologica | Year: 2014

The water channels milestones include: the vague idea of "hydrophilic pores" or "water-filled channels" in the red blood cell (RBC), the proposal that water channels (WCh) are accommodated in proteins, experiments associating WCh with the major RBC membrane protein called Band 3 (the anion exchanger), and the crucial experiment performed in 1985 by Benga group in Cluj-Napoca, Romania, proving the presence and location of a minor protein of the RBC membrane involved in water transport. In the landmark papers of 1986, Benga introduced the concept of the WCh being a protein specialized in water transport, i.e. a water channel protein (WCP). The first WCP discovered by our group was re-discovered in 1992 by Agre group. In the same year two other WCPs were discovered. The name aquaporins was proposed in 1993. In subsequent years hundreds of WCPS have been discovered in organisms from all kingdoms of life. WCPs are a family of membrane proteins, belonging to the Membrane Intrinsic Proteins superfamily. WCPs family include three subfamilies: 1) aquaporins (AQPs) which are mainly water selective channels; 2) aquaglyceroporins are permeable to water and to other small uncharged molecules; 3) S-aquaporins (subcellular or superaquaporins). Benga called aquaglyceroporins and S-aquaporins the "relatives of aquaporins". Twelve WCPs were identified in the human body, having a great importance in a lot of physiological phenomena, as well as in pathological conditions, from well defined "water channelopathies" to a wide range of diseases. Benga propose the name of aquaporinology for the domain of biomedical and natural sciences dedicated to the integrated approach of WCPs (aquaporins and relatives), which is also a chapter of Cellular and Molecular Biology. Source

Morariu V.V.,Cluj Branch | Mihali C.V.,Vasile Goldis Western University of Arad | Frentescu L.,First Laboratory for Genetic Explorations | Frentescu L.,University of Medicine and Pharmacy, Cluj-Napoca | And 7 more authors.
Acta Endocrinologica | Year: 2014

Developments in the understanding of the molecular basis of water permeability of the red blood cell (RBC) have taken place rapidly since the discovery in 1985 in Cluj- Napoca, Romania, by the group of Benga of a water channel protein (WCP), later called aquaporin 1 (AQP1), in the RBC membrane. However, the physiological role of AQP1 is not yet fully understood. Investigations of RBCs from human subjects of various ages could help shed light on this important issue. We present a short review of our studies on this topic that were published in less “visible” journals and books.The diffusional water permeability (Pd) of the RBC membrane has the lowest values in the newborns. Then Pd values are increasing in children, reaching at about 7 years a value that remains rather constant in young and mature subjects. The high permeability to water of the RBC membrane can be correlated at these ages with the ability to undertake a high level of physical activity. In elderly individuals (over 65 years) a further small, but statistically significant, increase in the diffusional water permeability of RBC was observed. In this case the higher RBC water permeability can be correlated with a requirement of the RBC membrane to favour the membrane undulations and the rapid entry or exit of solutes of molecular size greater than water, in conditions when the organism is less physically active, probably has lower metabolic rates and lower mean rates of blood circulation. © 2014, Acta Endocrinologica Foundation. All rights reserved. Source

Frentescu L.,Victor Babes University of Medicine and Pharmacy Timisoara | Frentescu L.,First Laboratory for Genetic Explorations | Budisan L.,First Laboratory for Genetic Explorations | Benga G.,First Laboratory for Genetic Explorations | And 3 more authors.
Acta Endocrinologica | Year: 2013

Aim. To correlate the profile of CFTR gene mutations in patients from Romania with the ethnogenesis of Rumanian people. Patients and methods. One hundred sixty-five patients with clinical diagnosis of CF and elevated values at sweat test were included in the study. Samples of EDTA-anticoagulated blood were obtained by venipuncture, sent to our laboratory and DNA was extracted from leukocytes. For the majority of blood samples we used standardized methods for analysis of at least 18 common mutations. Ten DNA samples were analyzed for 38 CFTR mutations with a kit recently introduced in our program of investigations of CFTR gene mutations.Results. The most frequent mutations in CF patients from Romania are F508del (53.6%), G542X (4.6%), W1282X (2.1%) and CFTRdele2,3(21kb) (1.2%). Other mutations were detected at frequencies less than 1.0%. The profile of the CFTR gene mutations in Rumanian patients appears to be very different from its counterpart profile in Romania's neighbour countries and rather similar with the profile of mutations in France, Italy and Spain (which, similar to Romania, are Neo-Latin countries). A notable difference between Romania and these Neo-Latin countries is the presence of a Slavic mutation, CFTRdele2,3(21kb) in Rumanian patients; this might reflect the Slavic component in the ethnogenesis of Rumanian people.Conclusion. The profile of the CFTR gene mutations in Rumanian patients confirms the overwhelming evidence regarding the ethnogenesis of Rumanian people from the admixture of Dacians or Getae (the ancient autochtonous inhabitants of the territory of present-day Romania) with Roman (or Romanized) legionnaires and colonists, forming the Daco-Roman population (the basis of Rumanian people), who assimilated the Slavs that entered in the territory of present-day Romania in the VIth century. Source

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