Biomedical subjects

Jerzy Bal

Publications and source records attributed to Jerzy Bal.

22 records · Page 2Linked to original sources

PubMedDate not supplied

[II. Pharmacogenetics--the future of modern pharmacology and genetics].

Pharmacogenetics is a scientific discipline connecting pharmacology and genetics. Its point of interest is an analysis of the variable, genetically determined patient's response to drugs. The basic discovery in this field was the elucidation of the heterogenic response of patients to the tuberculostatic drug -- isoniazid. The new era of searching for the molecular background of the variable drugs metabolism has begun after identification, in the 50's, of the polymorphic variants of NAT2 gene. It encodes for N-acetyltransferase 2, an isoniazid metabolizing enzyme. The key catalysts of the biotransformation reactions are cytochrome P450 isoenzymes. Identification of the polymorphic variants of genes encoding these enzymes enabled an explanation of the heterogenic drugs tolerance. The current knowledge shows that the genetic defects that are responsible for variable pharmacological response concern not only genes encoding the metabolising enzymes but also transporter proteins and drug receptors. Due to achievements of the molecular genetics and putting into practice the modern bioinformatic technics new pharmacological opportunities have been created. It becomes possible to predict the patient's individual reactions and needs, without the necessity of treatment by "trial and error". Pharmacogenetics will allow to implement personalized therapy leading to safer and more effective drugs usage. Identification of the individual metabolising paths will reduce patient's exposition to the side effects of many drugs. In spite of many financial and logistic limitations there are chances of introducing the pharmacogenetic analysis -- as an obligatory step -- to the phases II and III of clinical trials by 2020.

Cytochrome P-450 Enzyme System↗

PubMedDate not supplied

[On the way to gene therapy in cystic fibrosis].

Cystic fibrosis (CF) is the most common recessively inherited lethal disease among the Caucasian population. CF is caused by mutations in the CFTR gene. Although several organs and tracts are affected, severe lung disease is the cause of the most of the morbidity and mortality in CF individuals. Current treatment is aimed at slowing the inevitable progression of lung disease, rather than halting it, or preventing its onset. The isolation of the gene responsible for CF suggested the feasibility of new therapeutic possibilities based on the CFTR gene transfer to CF patients. At present, somatic CF gene therapy clinical trials, using mostly animals but also CF patients, are being conducted. Gene therapy development is restricted by the lack of the appropriate gene vector systems, which could be successfully used to transfer in vivo and protect the therapeutic gene. This is because of the many extracellular, intracellular and immunological barriers, which protect living organisms against invasion of foreign genetic material. Future improvement in gene therapy depends on the more effective ways of the gene transfer methods, creation animal models of the human diseases and development of strategies involved in the new gene construct formulation, which facilitate to control gene transcription activity.

Cell Nucleus↗

PubMedDate not supplied

[Genetic markers in the pathogenesis of osteopenia and osteoporosis in cystic fibrosis].

Cystic fibrosis (CF) is the most common recessive autosomal disorder in the Caucasian population. Advancements in treatment of CF patients have increased life expectancy from approximately 2 to over 30 years. Complex approach to the health status and management of CF children increased the interest in osteoarticular system pathology in these patients. This particularly concerns osteopenia and osteoporosis. Multiple studies indicate that osteoporosis is a genetic disease in which the phenotype is determined by both environmental and genetic factors and by mutual interactions between them. It is postulated that osteoporosis occurs as the result of mutations and/or polymorphisms in many different genes. The evidence for the genotype-phenotype correlation came from the analysis of mutations and polymorphisms in Collagen Type I Alpha 1 (COL1A1), Vitamin D Receptor (VDR) and Calcitonin receptor (CALCR) genes. Determination of osteoporotic genetic background may lead to better understanding of the pathomechanism of osteoporosis in CF patients and to help further define treatment guidelines.

Bone Diseases, Metabolic↗

PubMedDate not supplied

[Attention deficit hyperactivity disorder (ADHD)--molecular and genetic aspects].

Attention deficit hyperactivity disorder (ADHD) is a common neurobehavioral disorder of childhood, affecting approximately 5-10% of children. ADHD is considered to be a multifactorial disorder because both genetic and environmental components may contribute to its progress. The etiology of attention deficit hyperactivity disorder (ADHD) is unknown, however family, twin and adoption studies have suggested that genetic factors are very important in its etiopathogenesis. The research of genetic basis of ADHD consists of linkage analysis, candidate gene approach and association studies. These analyses and also investigations on animal models of disease suggest that mutations in genes involved in dopaminergic, serotonergic and adrenergic systems are likely to be responsible for ADHD.

Attention Deficit Disorder with Hyperactivity↗