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EN
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.
EN
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.
EN
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.
EN
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.
EN
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.
EN
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.
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vol. 55
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issue 1
37-51
EN
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.
EN
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.
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2009
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vol. 59
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issue 1
57-66
EN
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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