Fragments of mitochondrial DNA are released from mitochondria upon opening of the mitochondrial permeability transition pore. Cyclosporin A, an inhibitor of pore opening, completely prevented the release of mitochondrial fragments. Induction of mitochondrial permeability transition and subsequent release of the fragments of mitochondrial DNA could be one cause of genomic instability in the cell.

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Exogenous thyroid hormones are regulators of cellular metabolism that involves, along with other cell structures, mitochondria. Mechanisms of the influence of thyroid hormones on the biogenesis of mtDNA are not fully understood due to their pleiotropic nature. Different ways of regulation of mitochondrial biogenesis by thyroid hormones are discussed in literature, but thyroid receptors, localized in both the nucleus and mitochondria, are the main elements of most pathways. Data on events occurring after receptor activation are rather contradictory. We investigated the degree of involvement of mitochondrial transcription factors in the biogenesis of mtDNA induced by triiodothyronine. The contribution of TFAM, TFB2M, and helicase Twinkle in thyroid-induced mtDNA biogenesis was assessed. The activation of TFAM and TFB2M expression is shown to be required for the induction of mtDNA biogenesis. The role of helicase Twinkle, the expression induction of which is also observed after triiodothyronine addition, remains unclear. The analysis of factors that activate TFAM and TFB2M expression showed that NRF-1 is the determinative regulator: deficiency of this factor leads to complete collapse of mtDNA biogenesis. However, lack of transcriptional coactivator PGC-1α did not lead to significant reduction in thyroid-induced biogenesis, whereas literature data point to its key role in the biogenesis of mitochondria. Thus, in this study the role of key transcription factors in mtDNA biogenesis induced by triiodothyronine was demonstrated for the first time in a model system.

2 Балтийский федеральный университет им. И. Канта, Калининград 236041, Российская Федерация 3 Новосибирский государственный университет, Новосибирск 630090, Российская Федерация Резюме. В научном обзоре рассматривается проблема привычной потери плода по причине носительства генов, ассоциированных с тромбофилией. Кратко описаны физиологические и анатомические аспекты, позволяющие отнести беременность к тромбогенным рискам, дан обзор по генетическим полиморфизмам, определяющим склонность к тромбофилиям. Указаны сведения об положительных и неудачных результатах ЭКО у женщин с носительством генов, ассоциированных с тромбофилией. Проведен литературный обзор по изучаемой теме, приведены промежуточные результаты авторских исследований по представленному вопросу в Калининградской области, сравнение полученных данных. Даны предположения о закономерностях распространения определённых полиморфизмов в Калининградском регионе. Ключевые слова: полиморфизм генов, наследственные тромбофилии, привычное невынашивание, беременность, репродуктивные потери, мутации гемостаза. Для цитирования: Шостак ДП, Пашов АИ, Патрушева ВЕ, Стуров ВГ, Горбунов АП. Исследование генов системы гемостаза у беременных в европейской популяции. Сибирское медицинское обозрение. 2018;(2): 5-12.Abstract. Th e scientifi c review considers the problem of habitual loss of the fetus due to the carriage of genes associated with thrombophilia. Physiological and anatomical aspects that allow attributing pregnancy to thrombogenic risks are briefl y described, a review of genetic polymorphisms determining the propensity to thrombophilia is given. Th e data on the positive and unsuccessful results of IVF in women with the carriage of genes associated with thrombophilia are indicated. A literature review on the topic was carried out, intermediate results of author's studies on the presented issue in the Kaliningrad region, comparison of the obtained data are given. Th e assumptions about the patterns of the distribution of certain polymorphisms in the Kaliningrad region are given.

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