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Regulation of the genes involved in neurotransmission in Attention Deficit/Hyperactivity Disorder

100%
Cuch B., Polaczek A., Idziak M., Kotuła L., Maciejewski R., Madej-Czerwonka B., Kocki J.
Current Issues in Pharmacy and Medical Sciences
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2015
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vol. 28
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issue 2
115-119
EN
Attention Deficit Hyperactivity Disorder is the full name of the disease commonly deemed ADHD. This disease is most frequently diagnosed in childhood, and it affects up to 12 % of all children world-wide. The current clinical criteria (the base for diagnosis) can be found in DSM -V. The core symptoms are divided in three groups: hyperactivity, impulsivity and impaired attention. The aetiology of the disorder is combined, including a wide range of factors, and the genetic, environmental, toxic, perinatal background is taken into account. Because, currently, more and more studies are seeking to explore the heritability of the disorder, the aim of this study is to review the information provided by different research centres which discuss the genetic background of the disease. Herein, we present the results of different studies gathered from the online database. Our findings indicate that the participation of genetic factors within this disorder is supported by family, twin and adoption studies. Indeed, in current literature, researchers estimate that there is a higher risk of developing ADHD among children from families with an ADHD history. Of particular note is that there are some studies indicating particular genes that determine the susceptibility to ADHD. Such studies make mention that most of these genes encode components of the dompaminergic and serotoninergic neurotransmission systems. Researchers in the field, thus, are attempting to link the presence of certain alleles in affected children with their response to treatment. Yet, while ADHD is now considered as being a disorder of genetic background, we cannot indicate a single gene or its mutation that would be crucial in the aetiology and diagnosis. Still, a number of candidate genes have been reported so far.
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The gene expression of class III inhibitors of apoptosis in arteriosclerotic disease

68%
Gil-Kulik P., Niedojadło A., Feldo M., Karwat J., Kotuła L., Chomik P., Dudek I., Filas M., Wojcieszek A., Zubilewicz T., Bogucka-Kocka A., Kocki J.
Polish Journal of Public Health
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2015
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vol. 124
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issue 1
38-41
EN
Introduction. Recent research shows that programmed cell death has great importance in the pathomechanism of atherosclerosis. The BIRC5 and BIRC6 genes belong to Class III IAPs with the anti-apoptotic effect. The proteins display multidirectional action. According to the available literature, in addition to the effect of apoptosis inhibition they also display other properties. It is suggested that they play an important role in the processes of proliferation and cellular differentiation. Aim. The aim of the study was to assess the expression of the BIRC5 and BIRC6 genes in normal peripheral blood lymphocytes and in peripheral blood lymphocytes of patients diagnosed with atherosclerosis. Material and methods. The analysis was carried out on RNA samples obtained from peripheral blood lymphocytes of 21 patients with diagnosed atherosclerosis. The specific fragment of the analysed gene was obtained through amplification with the use of cDNA synthesised in the reaction of reverse transcription. The test of expression was conducted with the use of the Real-Time PCR method. In the studied cases, the level of expression of the analysed gene was compared to the level of expression of the reference gene, B2M. Results. The study showed that mRNA of the BIRC5 and BIRC6 genes is present in the cells of patients with atherosclerosis, as well as in the cells of healthy individuals. The cells taken from the patients with atherosclerosis were mainly characterized by an increased gene expression in comparison to the normal cells. Conclusion. Increased BIRC6 and BIRC5 gene expression in the cells of the patients with atherosclerosis can suggest an increased amount of the inhibitor protein BRUCE and survivin, and also decreased sensitivity of cells to apoptosis. In the case of the patients who had significantly higher expression of the BIRC6 gene in lymphocytes compared to the norm, hypertension and diabetes mellitus were more common
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