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Polymorphism rs180128 in the PPARγ gene in relation to the concentration and composition of fatty acids in Czech adolescents
Hovhannisyan, Milena ; Vaňková, Markéta (advisor) ; Uhrová Mészárosová, Anna (referee)
The prevalence of obesity and type 2 diabetes in the adolescent population has been steadily rising. According to the previous studies, the rs1801282 (Pro12Ala) polymorphism in the PPARγ gene is connected to the development of obesity, hypertension, insulin resistance, hyperlipidaemia, and other metabolic complications of type 2 diabetes. Data collection was undertaken as part of the COPAT project (Childhood Obesity Prevalence and Treatment). A sample of 2246 Czech adolescents aged 13-17 was genotyped using RT-PCR and subjected to further anthropometric and clinical measurements, and biochemical testing. Data on their nutritional intake and dietary habits were collected as well. A randomly selected subgroup of 735 individuals was further tested for serum fatty acids ratios. Our goal was to 1) determine the effect of the rs1801282 polymorphism in the PPARγ gene on the anthropometric, clinical and biochemical parameters, 2) determine the effect of the interaction between the rs1801282 polymorphism in the PPARγ gene and obesity or overweightness on the observed parameters. The frequency of Ala allele in our sample was 15%. Ala allele was associated with lower fasting c-peptide (p=0,006) and fasting insulin levels (p=0,035). In obese Ala boy carriers higher levels of phospholipid and triacylglycerol...
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Polymorphism rs in the PPARG gene in relation to the concentration and composition of fatty acids in Czech adolescents
Hovhannisyan, Milena ; Vaňková, Markéta (advisor) ; Uhrová Mészárosová, Anna (referee)
The prevalence of obesity and type 2 diabetes in the adolescent population has been steadily rising. According to the previous studies, the rs1801282 (Pro12Ala) polymorphism in the PPARG gene is connected to the development of obesity, hypertension, insulin resistance, hyperlipemia, and other markers of type 2 diabetes. Data collection was undertaken as part of the COPAT project (Childhood Obesity Prevalence and Treatment). A sample of 2246 Czech adolescents aged 13-17 was genotyped using RT-PCR. 735 individuals from this sample were subjected to further anthropometric and clinical measurements, and biochemical testing. Data on their nutritional intake and dietary habits were collected as well. Our goal was to 1) determine the effect of the polymorphism on the anthropometric, clinical and biochemical parameters, 2) determine the effect of the genotype-phenotype interaction on the lipid spectra. We measured the frequency of Ala allele as 15%. Ala allele was associated with lower fasting c-peptide (p=0,006) and fasting insulin levels (p=0,035). In obese Ala carriers we detected higher levels of phospholipid and triacylglycerol ω-3 polyunsaturated fatty acid than in lean Ala carriers or obese noncarriers. Keywords: PPARγ2, Pro12Ala, fatty acids, obesity, COPAT project
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Molecular biological analysis of pheochromocytoma and paraganglioma.
Musil, Zdeněk ; Hirschfeldová, Kateřina (advisor) ; Zamrazilová, Hana (referee) ; Uhrová Mészárosová, Anna (referee)
This work summarizes the results of a research inquiring into relatively rare neuroendocrine tumors - pheochromocytomas and paragangliomas (PHEO/PGL) These tumors may arise on a hereditary genetic predisposition basis. On that account we primarily focused on a genetic examination of patients with PHEO/PGL. Methods for diagnostics of changes in SDHD, SDHB and RET genes were implemented. The number of examined genes has been (and is still being) extended. Currently we are investigating these genes: ATRX, BRAF, CDH1, CDKN2A, CDKN2B, FGFR1, FH, FHIT, GNAS, HIF2A (EPAS1), H-RAS, IDH1, IDH2, KIF1Bß, KMT2D, K-RAS, MAML3, MAX, MDH2, MET, NF1, NGFR, N-RAS, PHD2/EGLN1, RET, SDHA, SDHAF2, SDHB, SDHC, SDHD, TERT, TMEM 127, TP53 and VHL, using next generation sequencing. The number of variations of the above mentioned genes is different (23%) in Czech patients with PHEO/PGL in comparison with some foreign studies (27%, 40%). This may be caused by geographical influences or selection of patients. PHEO/PGL occur mainly (75%) in a benign form. A malignant form may be indicated by the presence of chromaffin tissue in locations where these tumors do not usually occur - liver, lungs, bones. In our study we focused on characteristics indicating the malignancy, for example, the lower age of patients with the first manifestation...
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The Application of Massively Parallel Next Generation Sequencing Technologies for Diagnosis of Hereditary Spastic Paraplegia: A Contribution to the Development of DNA Diagnosis of a Highly Heterogeneous Disease
Uhrová Mészárosová, Anna ; Seeman, Pavel (advisor) ; Roth, Jan (referee) ; Janíková, Mária (referee)
Doctoral thesis Anna Uhrová Mészárosová, MSc. The Application of Massively Parallel Next Generation Sequencing Technologies for Diagnosis of Hereditary Spastic Paraplegia: A Contribution to the Development of DNA Diagnosis of a Highly Heterogeneous Disease. Prague, 2018 Abstract The aim of this work is to map the genetical spectrum of hereditary spastic paraplegia in Czech patients. Hereditary spastic paraplegia (HSP) is an inherited neurological disorder, clinically characterized by progressive weakness and spasticity of the lower limbs leading to problems with gait and can cause the complete loss of the ability to walk. HSP is clinically and genetically very heterogenous; more than 90 HSP types and pathogenic variants in more than 70 genes have been described to date. HSP manifests as an uncomplicated (pure) form in the majority of HSP patients. Less often it manifests as a complicated phenotype with the associated clinical signs (mental impairment, epilepsy, ataxia, atrophy of the optic nerve). We performed massively parallel sequencing (MPS) of uncomplicated HSP gene panel in a group of 96 Czech patients with suspected uncomplicated type of HSP. In all patients the most common HSP type SPG4 was previously excluded. HaloPlex Target Enrichment kit and SureSelect Target Enrichment kit (both Agilent...
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