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Genetic factors in the etiology of migraine
Skoblíková, Daniela ; Šolc, Roman (advisor) ; Mravec Bencúrová, Dominika (referee)
Migraine is a chronic condition with a significant prevalence in the human population- Its aetiology involves a combination of both environmental and genetic factors; however, the primary cause is still not entirely clear. The pathophysiological mechanism of the brain, which forms the basis of migraine aura, is considered to be a transient wave of neuronal depolarization in the cortex, known as cortical spreading depression (CSD). Despite considerable discrepancies, there is a wealth of information on suspected or already identified genes whose mutations could potentially be responsible for initiating the migraine state. Currently, there are three recognized responsible genes that have been identified through classical linkage analysis. All three known FHM mutations encode mechanisms that affect ion transporter: the CACNA1A, ATP1A2, and SCN1A genes. Their dysfunction ultimately leads to an increase in neuronal excitability. Pathogenic variants in other genes, such as PRRT2, PNKD, SLC2A1, SLC1A3, SLC4A4, and KCNK18, have also rarely been found in HM. Keywords: migraine, genetic factors, pain, aura
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Genetic factors influencing the characteristic facial features of people with psychical disorders
Frajbišová, Aneta ; Šolc, Roman (advisor) ; Kočandrlová, Karolina (referee)
The facial part of the head of the embryo is formed alongside with the brain from the same precursors. The face is formed from the neural crest cells, which arise from the neuroepithelium. This means that if there is some kind of disruption in the early development of the brain, it will be shown in the face. The neuroepithelium induces the expression of many important genetic factors for the formation of the face. For example PAX3, Dsl-1, HMGN1. However, environmental factors also have an impact on the final look of the face. The environmental factors are for example diet or the way of breathing. Persons with the syndromatic psychic disorders have well known and researched facial morphology compared to persons with asyndromatic psychic disorders such as schizophrenia, ASD, OCD and bipolar disorder, which are still the object of many studies. Genetic factors that have an impact on facial dysmorphology, are usually genes that have their main role in the central nervous system or they indirectly impact through signalling pathways on other genes, which are known to have an impact on the face such as Fgf genes. The goal of this thesis is to determine these genetic factors.
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Awareness of Sexuality - Sex Education in Primary and Secondary Schools
Rachová, Kateřina ; Chlebounová, Irena (advisor) ; Šolc, Roman (referee)
(EN) The topic of this bachelor thesis is the teaching of sex education in primary and secondary schools in the Czechia and selected foreign countries. The thesis describes the basic concepts related to sexuality and sex education. The aim of the thesis is to evaluate and compare how sex education is implemented in different countries. Furthermore, the thesis focuses on how information is conveyed to pupils in the subject of sex education and what are the aims of this subject. Subsequently, the basic methods of teaching sex education and the approaches to this subject in different countries are also described. The thesis concludes with a summary of the results and proposing recommendations for improving the quality of teaching sex education in primary and secondary schools in the Czechia.
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Genetic factors in the etiology of sleep disorders
Dvořáková, Markéta ; Šolc, Roman (advisor) ; Červená, Kateřina (referee)
Sleep disorders are a group of disorders affecting a considerable part of proportion of the human population. Their aetiology is usually very complex and includes environmental and genetic factors. The nature of these disorders is often multifactorial. Sleep medicine and the field of synthesis of its findings with those of modern or classical genetics still offer quite a huge possibilities of research. However, despite many unresponsed questions, it is now possible to summarise the identified confirmed or suspected genes whose mutations are involved in the causes of these disorders. It is possible to estimate the heritability of certain disorders based on their multiple occurrence in families, presence in twins or prevalence in the population across different ethnics. This bachelor thesis focuses on genetic aspects in the etiology of sleep disorders, their heritability, the strength of the genetic component, and genetic links between some of the disorders.
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The influence of circadian rhythms on the origin, course and treatment of human psychical disorders
Kititi, Tina ; Šolc, Roman (advisor) ; Škubica, Patrik (referee)
Circadian rhythms control several major functions in our body. Today's hectic lifestyle could damage circadian rhythms and also trigger a number of negative conditions that are predictors of psychical disorders. Schizophrenia and bipolar disorder are classified as serious mental disorders with a recurrent course and frequent long-term to lifelong treatment. Disruption of circadian rhythms has been shown to worsen the symptoms of these psychical disorders and increase their relapse rates. The disrupted circadian rhythms have the greatest impact on sleep patterns and differential rhythms of hormone production. Many studies suggest chronobiological treatment as a possible adjunctive treatment to conventional treatment with antidepressants and antipsychotics. The main goal of chronobiological treatment is to return the circadian rhythm to its correct original state. Although there is some association between circadian rhythms and the pathophysiology of psychical disorders, its exact role is not clearly understood. Key words: circadian rhythms, psychical disorders, bipolar disorder, schizophrenia, sleep
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Molecular genetic analysis of selected cryptic rearrangements of human chromosomes
Šolc, Roman ; Hirschfeldová, Kateřina (advisor) ; Zemanová, Zuzana (referee) ; Kuglík, Petr (referee)
The presented dissertation summarizes the results of research focused on the study of cryptic rearrangements of human chromosomes. Specifically, it focuses on three core areas of research. The first area is the research of cryptic rearrangements identified as causal causes of mental retardation in patients with previously unknown aetiology. The most common are the so-called microdeletion syndromes. The large variability of the phenotype and often overlapping symptoms of microdeletion syndromes require a whole-genome approach. Within the research, 64 probands were investigated and in 10 (16%) cryptic rearrangements were found and further analyzed. The second area is the research of cryptic rearrangements associated with the pseudoautosomal region 1 (specifically with the SHOX gene region), which may be both natural components of population variability and the cause of the disease. Within the research, 98 patients with Léri-Weill dyschondrosteosis or idiopathic short stature were examined, with a causal mutation found in 68.8%, and 7.8% probands respectively. At the same time, the minor deletion (so-called L05101 deletion) was evaluated as a population polymorphism without an apparent phenotypic impact. Duplications with high pathogenic potential were identified by mean of comparative analysis of...
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Cryptic Rearrangements of Human Chromosomes Associated with Autism Spectrum Disorders
Křivánková, Anna ; Šolc, Roman (advisor) ; Růžičková, Šárka (referee)
Autism spectrum disorders (ASD) are heterogeneous group of neurodevelopmental disabilities characterized by antisociality and atypical behavioral patterns. Its etiology is very complex, autism is usually formed by combining many factors. One of the causes may be genetic (gene mutation). It is known about 450 candidate genes for ASD so far. Minority of these genes occur in loci which are affected by cryptic rearrangements. These rearrangements significantly contribute to manifestation of this disorder. Patologies they cause, lead to syndromes with high penetrance for ASD such as Angelman/Prader-Willi or DiGeorge syndrome. Other loci are found on chromosome 1, 2 or 16. Due to short time of studies of cryptic rearrangements, phenotypic variability and number of patients we can expect more researches in the future. These researches are expected not to overlook the impact of the aberrations on formation of autism spectrum disorders.
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Minor forms of spinal muscular atrophy
Metelcová, Tereza ; Šolc, Roman (advisor) ; Daňková, Pavlína (referee)
Spinal muscular atrophy (SMA) is neuromuscular disorder. This disorder affects motor neurons in anterior horns of spinal cord and brainstem, and cause muscle weakness. Some forms of SMA may be cause by damage peripheral nerve. The most significant difference in the pathology of SMA emerging at the level of the spinal cord and peripheral nerves is deterioration of sensory ability. Decreased ability of sensation, due to damage to sensory nerves. Nowadays, it is known 29 forms of SMA, which differ genetically, age of onset of the disorder, severity of symptoms and life expectancy. Mutation of minor forms of SMA is very diverse. Mutated genes are located on 15 different chromosomes, including the X chromosome. Clinical symptoms of SMA is similar in most forms. Several forms has another symptom besides muscular weakness. Nowadays, it is not yet known genetic cause of all forms of SMA
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Molecular Genetic Analysis in Patients Suspected of Cryptic Rearrangements.
Šolc, Roman ; Hirschfeldová, Kateřina (advisor) ; Vícha, Aleš (referee)
Such chromosomal rearrangements, which cannot be detected by using of cytogenetic banding of metaphase chromosomes, i.e. chromosomes smaller than 3 - 5 Mb, and therefore modern molecular genetic methods are used to detect them, are called "cryptic rearrangements". Their important role in human pathology is more and more significant. By using of the multiplex ligation-probe dependent amplification method (MLPA) we examined a group of 50 probands with idiopathic mental retardation. A cryptic rearrangement was found at 8 probands (16 %), at 6 of them it was demonstrably causal. Then we examined a group of 40 probands suspected of gene SHOX pathology. A cryptic rearrangement was found at 17 probands (42.5 %) and at 8 of them it was demonstrably causal. Presence of small deletion founded isolated at 7 probands was verified in a population set, but without a positive result. An analysis of mutations was made too.
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