ЖҮРЕК АРИТМИЯСЫ БАР НАУҚАСТАРДАҒЫ КАЛИЙ КАНАЛЫ ГЕНДЕРІНДЕГІ МУТАЦИЯЛАР. ӘДЕБИЕТТІК ШОЛУ
Introduction. Cardiac arrhythmias are the most common among the group of cardiovascular diseases (CVD), and can lead to sudden cardiac death (SCD). More than 2 million cases of SCD occur due to arrhythmia. Ion channels are crucial for the transmission of electrical signals in cardiomyocytes. Potassium (K+) channels play an important role in repolarization of action potential (AP). Cardiac channelopathies affect at least 1:1000 people, clinically appearing in various cardiac arrhythmias, seizures, syncope, SCD, etc. Nowadays identification of mutations in potassium channel genes in patients with arrhythmia and detection of genetic causes of arrhythmic heart diseases are actual in cardiology. Aim. To do research about potassium channel mutations in patients with cardiac arrhythmia according to a literature review. Research strategy. Search for scientific publications was carried out in the following databases: PubMed, Scopus, Web of Science and Google Academy. Criteria for inclusion of publications in the literature review were defined as publications with the full text, in Russian and English. The search depth was 10 years: from 2012 to 2022. 21 articles were selected as analytical material and went through a critical evaluation process. Results. The literature review showed that over the past decades we have made progress in understanding the genetic causes of arrhythmic heart diseases. Mutations in potassium channel genes underlie hereditary channelopathies, such as long QT syndrome (LQTS), short QT syndrome (SQTS), Brugada syndrome, Andersen-Tawil syndrome, and including atrial fibrillation (AF). Conclusions. The molecular mechanisms that cause potassium channel dysfunction remain poorly understood. Genotyping technologies can help to understand molecular pathways associated with mutations in potassium channel genes and will identify new therapeutic targets in arrhythmia.
Ayaulym E. Chamoieva 1,2, https://orcid.org/0000-0003-0877-3537 Ainur R. Akilzhanova 1,2, https://orcid.org/0000-0001-6161-8355 1 National Laboratory Astana, Nazarbayev University, Nur-Sultan city, Republic of Kazakhstan; 2 L.N. Gumilyov Eurasian National University, Nur-Sultan city, Republic of Kazakhstan.
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Чамойева А.Е., Акильжанова А.Р. Жүрек аритмиясы бар науқастардағы калий каналы гендеріндегі мутациялар. Әдебиеттік шолу // Ғылым және Денсаулық сақтау. 2022. 3 (Т.24). Б. 117-126. doi 10.34689/SH.2022.24.3.015

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