Фенотипическая вариабельность и варианты-модификаторы у детей с наследственными заболеваниями сердца
https://doi.org/10.21508/1027-4065-2021-66-3-12-19
Аннотация
Несмотря на достигнутые в последние десятилетия успехи в области поиска причин моногенных заболеваний человека, существует огромный пробел в понимании молекулярных причин фенотипической вариабельности. В настоящее время становится очевидным, что зачастую патогенный генетический вариант действует не в одиночку, а вместе с другими генетическими и негенетическими факторами, которые могут уменьшать или, наоборот, усугублять тяжесть заболевания. Таким образом, чтобы по-настоящему понять болезнь, необходимо учитывать всю совокупность механизмов, приводящих к результирующему фенотипу. В этой работе мы рассматриваем текущее состояние дел в области идентификации генетических и негенетических модификаторов фенотипа редких моногенных сердечно-сосудистых заболеваний.
Об авторах
Н. В. ЩербаковаРоссия
Щербакова Наталья Владимировна – зав. лабораторией молекулярной и биохимической диагностики, врач-кардиолог консультативно-диагностического отделения
125412 Москва, ул. Талдомская, д. 2
А. Б. Жиронкина
Россия
Жиронкина Анна Борисовна – студентка VI курса педиатрического факультета
117997 Москва, ул. Островитянова, д. 1
В. Ю. Воинова
Россия
Воинова Виктория Юрьевна – д.м.н., зам. дир. по трансляционной медицине, глав. науч. сотр. отдела клинической генетики
125412 Москва, ул. Талдомская, д. 2
Р. А. Ильдарова
Россия
Ильдарова Рукижат Абдул-Гафуровна – к.м.н., ст. науч. сотр. отдела детской аритмологии и кардиологии
125412 Москва, ул. Талдомская, д. 2
М. А. Школьникова
Россия
Школьникова Мария Александровна – д.м.н., проф., науч. рук.
125412 Москва, ул. Талдомская, д. 2
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Рецензия
Для цитирования:
Щербакова Н.В., Жиронкина А.Б., Воинова В.Ю., Ильдарова Р.А., Школьникова М.А. Фенотипическая вариабельность и варианты-модификаторы у детей с наследственными заболеваниями сердца. Российский вестник перинатологии и педиатрии. 2021;66(3):12-19. https://doi.org/10.21508/1027-4065-2021-66-3-12-19
For citation:
Shcherbakova N.V., Zhironkina A.B., Voinova V.Yu., Ildarova R.A., Shkolnikova M.A. Phenotypic variability and modifier variants in children with hereditary heart diseases. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2021;66(3):12-19. (In Russ.) https://doi.org/10.21508/1027-4065-2021-66-3-12-19