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National Repository of Grey Literature 2 records found  Search took 0.01 seconds. 
Implementation of New Methods for Studying the Molecular Genetic Basis of the CADASIL Disease
 Hrubá, Monika ; Vlášková, Hana (advisor) ; Čáp, Michal (referee)
CADASIL is a neurodegenerative autosomal dominant hereditary disease with late onset. Main symptoms are migraines with aura, cerebral ischemic events, cognitive impairment and dementia. The disease is caused by a mutation in the NOTCH3 gene. The major mutation type changes the number of cysteine residues in the EGF-like repeats of the Notch3 protein. In Czech Republic, currently used methods for molecular genetic analysis of the CADASIL disease are Sanger sequencing and MLPA. But there are patients with CADASIL-like symptoms who were not confirmed by these methods. Therefore, the aim of this thesis was to implement transcript analysis by Sanger sequencing of cDNA PCR products and quantitative real-time PCR (qPCR) to analyze gross deletions and duplications to clarify the molecular genetic basis of the disease. By transcript analysis, the existence of the transcript variant X1 was experimentally confirmed in control samples. Moreover, the results from transcript analysis showed that non-typical missense mutation c.1725G>A (p.T575=) which does not directly change the number of cysteine residues, can cause the CADASIL disease via missplicing and subsequent causing deletion including cysteine residues. The other tested variants did not show any changes in the transcript level. The qPCR method did not...
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Molecular genetic basis of CADASIL disease
 Hrubá, Monika ; Vlášková, Hana (advisor) ; Schierová, Michaela (referee)
CADASIL is a hereditary late-onset disease which is caused by a mutation in NOTCH3 gene. This gene belongs to the notch gene family that is conserved among Metazoa. The notch genes code transmembrane receptors which play role in Notch signal pathway during organism development. CADASIL is characterized by the impairing of small and medium vessels, especially cerebral arteries. The first symptoms appear in the middle age and the main symptoms are migraines with aura, recurrent strokes, cognitive impairment and dementia. The causes of this disease are mostly missense mutations altering the number of conserved cysteine residues in EGF-like domains of Notch3 protein. This thesis is focused on molecular genetic basis of CADASIL disease, it describes causative mutations and compares hypothesis about pathogenic mechanism of mutations. The penetration of the disease is not clarified yet but the thesis summarizes all current findings about genotype-phenotype correlations which can help to elucidate it. The phenotype differs between families and also between members of the same family. There is described the difference between men and women and the envi- ronmental influence too. There are also characterized the most common diagnostic techniques with their sensitivity and specificity in this thesis. In...
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