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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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