Atopy tends to run in families, suggesting the existene of a genetic predisposition. This review contains actual knowledge of the genetic basis of atopic disorders.
The familial occurence of alcoholism has been known for many years. Approximatly 50-60% of individual differences in risk for alcoholism is genetic, and this proportion is approximately equal in man and woman. The goal of this article is to review the current status in the search for 'candidate genes' for alcohol dependence. There are three basic approaches to identifying important genes. First, one can target genes based on their presumed importance in influencing alcohol sensitivity. The targeted gene can be overexpressed, underexpressed, or disrupted to the extent that its functionis ablated (a gene knock-out). Second, one can seek genes that are identified as important because they are differentially expressed. Third, one can seek variations in the sequence of genes that are associated with alcohol sensitivity. The first approach can only be attempted using genetic animal models. Each approach will be reviewed, with an emphasis on the second and third. The examples of statistical measures will be present, the differences between family designed studies and association studies in compare to unrelated healthy volunteers will be discussed.
Asthma is a common condition that results from the interaction of an unknown number of genes with envitonmental factors. Here, we describe the recent advances in this field including results of genome-wide searches for susceptibility genes.
Pharmacogenetic analysis is performed in order to find genetic factors in individually diversified responses of an organism to a biologically active substance, including drugs and stimulants. Pharmacogenetics helps in identification of genes associated with increased development risk of some diseases what may result in more effective prevention and reduction of incidence rate. Both fundamental and clinical research proved that alcohol drinking related behaviour is influenced by feature complex determined by biological and environmental factors. Animal model research indicate presence genetic determinants responsible for development of addiction and alcohol abuse. Genetic analysis in alcoholism research is related to functional gene polymorphisms of genes of alcohol metabolic pathway which influence alcoholic inclinations through pharmacokinetic mechanisms. Another area of research is related to genetic variants of proteins engaged in neuronal response on alcohol including individual sensitivity, reward system excitability, and tolerance development. Genome analysis (including COGA group research) adduced convincing data concerning existence of gene complexes located in chromosome regions 1, 2, 3, 4, 7, and 8 which may be connected with alcohol addiction development. Identification of genes involved in the development of alcoholism is important not only for effective prevention but also for development of molecular diagnostics and individualization of therapy.
Neural tube defects (NTD) together with cardiovascular system defects are the most common malformations in the Polish population (2.05-2.68/1000 newborns). They arise during early embryogenesis and are caused by an improper neural groove closure during the neurulation process. NTD can arise from the influence of specific environmental factors on the foetus. The genetic factor is also very important, because NTDs have multigenetic conditioning. It was suggested that genes connected with the regulation of neurulation could also be involved in NTD aetiology, especially when their deletion or modification leads to neural tube defects in the mouse model. Examples are genes from the PAX family, T (Brachyury), BRCA1 and PDGFRA genes.
Frederic Chopin ? a great Polish composer and pianist ? suffered from a chronic disease. Both during his life and after death physicians disagreed on the subject of Chopin?s diagnosis. His contemporaries accepted the diagnosis of a disease common in the 18th century ? tuberculosis. Description of new clinical entities provoked new dilemmas in the 20th century. In our opinion the most tenable seems to be the diagnosis of cystic fibrosis. In this work we present F. Chopin?s case history and discuss cons and pron for cystic fibrosis as the cause of F. Chopin?s suffering and death.
Multiple sclerosis (MS) is an inflammatory, demyelinating disease in the central nervous system (CNS) affecting approximately 0.1% of the population in the northern part of the world. The factors behind the initiation of the inflammatory response are not known at present, but MS is considered as a complex disease depending on genetic as well as environmental factors. Experimental autoimmune encephalomyelitis (EAE) is the prevailing experimental rodent model for multiple sclerosis (MS). Disease is induced in genetically susceptible mice or rats by immunization with myelin proteins or peptides, which leads to an infiltration of leukocytes into the CNS. EAE has been subjected to investigations of genetic susceptibility to disease development. By the identification of genes predisposing to EAE, the hope is to get clues as to what genetic elements are also important in MS. To date, more than 25 Eae loci have been described in the mouse. The quantitative trait loci are linked to different disease traits and several show sex specificity. Here we discuss the current state of the genetics controlling susceptibility to EAE.
Darwin's contributions to evolutionary biology are well known, but his contributions to genetics are much less known. His main contribution was the collection of a tremendous amount of genetic data, and an attempt to provide a theoretical framework for its interpretation. Darwin clearly described almost all genetic phenomena of fundamental importance, such as prepotency (Mendelian inheritance), bud variation (mutation), heterosis, reversion (atavism), graft hybridization (Michurinian inheritance), sex-limited inheritance, the direct action of the male element on the female (xenia and telegony), the effect of use and disuse, the inheritance of acquired characters (Lamarckian inheritance), and many other observations pertaining to variation, heredity and development. To explain all these observations, Darwin formulated a developmental theory of heredity ? Pangenesis ? which not only greatly influenced many subsequent theories, but also is supported by recent evidence.
The paper offers an analysis of the policy of protecting the genetic information. This policy, based on counterbalancing the practical dimension of genetics with the protection of individual rights, exemplifies an action tied to directives which are based on the normative convictions fitting the concept of communicative rationality. To underpin his hypothesis, the author introduces the notion of genetic discrimination and offers a survey of empirical research in this field, as well as examples of the policy of protecting the genetic information from the perspective of communicative action theory.
A few polymorphic loci has recently been identified in the beta 2-adrenoceptor gene that significantly influence receptor expression and its functions. Gene structure, regulation of the receptor expression and functions in regards to genetic polymorphisms and pathology are described.
The contribution deals with one of the problematizations of the care of the self-conception on the background of the anthropology and ethics of P. Sloterdijk, who has been exploring the issues since 1977. In 1999 his Elmau lecture Rules for the Human ZOO motivated one of the two most relevant discussions in the 20th century philosophical anthropology. He proved to be perhaps the most radical critic of philosophical anthropology (similarly to the discussion with Cassirer as early as in 1929 in which he rejected the anthropologism of philosophical anthropology in favour of fundamental ontology). The lecture was intended as a response to Heideggers´ Letter on Humanism in which Sloterdijk used Heidegger´s ontological metaphors to approach the past and future of humanity, including anthropogenesis, current application of anthropotechnics and the threat of transcending present boundaries in new genetic definitions.
In 2004-2005, a team directed by Jerzy Gassowski (Pultusk Academy of Humanities) carried out archaeological excavations inside the cathedral at Frombork. The objective was to locate the grave of Nicolaus Copernicus. In the course of the work archaeologists uncovered the remains of 13 individuals, of which one skeleton (13/05) was identified indisputably as the remains of Copernicus. The identification was based on the following four premises: 1. individual 13/05 was buried in a spot hypothetically identified by Jerzy Sikorski in 2006 as Copernicus' burial place; 2. cranium 13/05 belonged to a male who died at the age of about seventy; 3. the face approximation of individual 13/05 reconstructed from an incomplete skull resembled the countenance of Copernicus from a copy of a lost portrait; 4. the mtDNA haplotype of individual 13/05 was found to agree with that of two hairs found in a book which had once belonged to Copernicus. The first of these premises was verified negatively in the course of excavations as the only skeleton identified by an inscription on the coffin was that of the canon Andrzej Gasiorowski. As a matter of fact, Jerzy Sikorski in his model had located Gasiorowski's burial in an entirely different place. The excavators had estimated the age at death of individual 13/05 as about 60-70 years. The sex was determined by the amelogenine gene. Nowhere in the original excavation report or the anthropological report was there any information on the age determination methodology. Age estimates based on tooth wear, conducted by three different methods (D. Brothwell 1981; A.E.W. Miles 1962; A.R. Millard, G.L. Gowland 2002) on a published photo of the palate and dental arch of the maxilla, have indicated a younger age at death, much less than the 60-70 years suggested by the excavators; according to Brothwell's tables the individual can be placed in the 25-35 years range.The third premise for the identification of individual 13/05 as Nicolaus Copernicus, which is the resemblance between the face approximation reconstructed from the cranium and the so-called Torun portrait, is precluded as a reliable method of identification due to the arbitrariness of face approximation. Consequently, identification by comparison of face approximation from an incomplete skull with a copy of a lost portrait has to be even more arbitrary and unverifiable. Genetic examination demonstrated agreement between the mtDNA haplotype of individual 13/05 and that of two hairs found in a book that was once the property of Nicolaus Copernicus. But this is hardly conclusive evidence even for attributing the hair from the book and the teeth and the bones from Frombork to a single individual, because the same mtDNA haplotype can be carried by different individuals. It is impossible, contrary to what Jerzy Gassowski states, to identify the remains of individual 13/05 with Nicolaus Copernicus based on mtDNA. Of the four premises supporting the identification of individual 13/05 as Nicolaus Copernicus none has proved to be acceptable. Therefore, individual 13/05 remains an anonymous male who died in his middle age. Tables 2.
Sjogren's syndrome (SjS) is chronic autoimmune disease manifested by the loss of saliva and/or tear secretion by salivary and/or lacrimal glands, respectively. The pathogenesis of the disease remains elusive, perhaps due to the multiple triggers of the disease. However, substantial advances have been made in attempting to resolve the complexity of SjS using both animal models and human subjects. The primary objectives of this review are to provide a better understanding of the disease processes with major emphasis on the use of mouse models, how genetic predisposition plays a role in the natural history of the disease, as well as a presentation of new findings pertaining to the role of TH1, TH2, and TH17 cells in the pathogenesis of SjS.
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The aim of the present article is to outline a very interesting phenomenon in cultural anthropology which is the very ancient and enigmatic presence of the Maragatos, human cultural isolates, in the mountainous purlieus of Spanish town Astorga, who despite of inhabiting the crossroads of several international centuries-old routes of trade and pilgrimage have managed to conserve their isolated and endogamous customs.
The genus Arthrospira includes filamentous cyanobacteria with multicellular cylindrical trichomes arranged in an open helix. The biomass of Arthrospira is composed of protein (50-70%), carbohydrates, lipids and minerals. It also contains carotenoids, phycocyanin and vitamins. Arthrospira species are found in tropical and semitropical regions. Arthrospira is industrially cultivated because of its high nutritional values as well as of its therapeutic properties. Commercial production of Arthrospira is carried out in open ponds and closed bioreactors. The biomass is sold by the incorrect name ?Spirulina' as a result of confusion in nomenclature regarding the genus Arthrospira.
The work includes a description of the period from the moment of setting up Polish Polar Station on King George Island (1977) to the end of International Polar Year IV in 2009. Researches on flower plants focused, among others, on plants' morphology, morphological composition of the pollen and anatomical ultra-structure of the leaves. There were also carried out biochemical and other searches for the internal mutability. Within physiological studies one concentrated on the problem of reaction to temperature stress. Biological researches focused mainly on solving taxonomic and bio-geographic problems. Finally, were published several monographs and, among others, the first in history complete description of moss' flora of the whole of Antarctic (2008). Research works over algae included also such issues as floristics, bio-geography, taxonomy and ecology (for instance, the rookery's impact on distribution of algae, or the influence of inanimate factors on dynamics of condensing the Diatoma in different water and soil-bound tanks). Up till now, within mycological investigations has been identified a variety of lichen fungi that for the most part of Antarctic are a novelty. There were scientifically described new for science genera and species of Western Antarctic. Lichenological studies were made in the field of taxonomy, geography, lichenometry, biochemistry of lichens, lichenoindication, ecophysiology and from the point of analysis of base metals' content. There were also described new for science species. Since 1991, were published the results of searches for the base metals' content and vestigial chemical elements in lichens' thallus. Ecophysiological researches concerned both micro-climatic conditions' impact on primary production and lichens' adaptation to a very cold climate. One discovered a mechanism of two-phase hydratization/dehydratization of lichens' thallus. On the ground of palaeobotanical analyzes was reconstructed a development of flora in Western Antarctic from the late Cretaceous period to the beginning of Melville's continental glaciation. One singled out three floristic stages and were reconstructed their peculiarities in the development of flora. There was also described an early Jurassic flora of Hope Bay (Pólwysep Antarktyczny - Antarctic Peninsula) that turned out to be the richest Jurassic flora in the world. From that point of view were analyzed new species of mineral plants. Ecological researches concentrated on the problems connected with several issues and, among others, with the processes of settlement and succession, distribution and ecology of land biotopes, changes in their spatial structure, and state of biotopes' biological mass. The second group of issues concerned the anthropogenous impacts. One also analyzed early stages of synanthropization of flora. Another important issue was recognizing an extent of the pollution of the environment, particularly with base metals. In the years 1977 - 2009 were published, at least, 426 notes, articles and monographs that were a result of botanical and mycological researches on sheets of land of Antarctic and Sub-Antarctic.
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