References

medgen

Медицинская генетика

Medical Genetics

2073-7998

Publishing House «Genius Media» LLC

10.25557/2073-7998.2021.09.3-13

medgen-1973

Research Article

НАУЧНЫЕ ОБЗОРЫ

REVIEW

Особенности фокальной кортикальной дисплазии при туберозном склерозе

Characteristics of cortical tubers in tuberous sclerosis

Бычкова

Е. В.

Bychkova

E. V.

noemail@neicon.ru

Дорофеева

М. Ю.

Dorofeeva

M. Iu.

noemail@neicon.ru

Стрельников

В. В.

Strelnikov

V. V.

noemail@neicon.ru

Аношкин

К. И.

Anoshkin

K. I.

anoshkin@epigenetic.ru

ГБОУ ВПО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова Минздрава России»РоссияN.I. Pirogov Russian National Research Medical UniversityRussian Federation

Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева, ФГАОУ ВО «РНИМУ им. Н. И. Пирогова Минздрава России»РоссияYu.E. Veltischev Research and Clinical Institute for Pediatrics, N.I. Pirogov Russian National Research Medical UniversityRussian Federation

ФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияResearch Centre for Medical GeneticsRussian Federation

2021

09122021

209313

2021

Бычкова Е.В., Дорофеева М.Ю., Стрельников В.В., Аношкин К.И.

Bychkova E.V., Dorofeeva M.I., Strelnikov V.V., Anoshkin K.I.

Данная работа распространяется под лицензией Creative Commons Attribution 4.0.

This work is licensed under a Creative Commons Attribution 4.0 License.

https://www.medgen-journal.ru/jour/article/view/1973

Туберозный склероз - орфанное аутосомно-доминантное наследственное заболевание, причиной которого являются инактивирующие мутации в генах TSC1 или TSC2, сопровождающиеся гиперактивацией сигнального пути mTOR, отвечающего за регуляцию роста, пролиферации, выживаемости клеток, а также аутофагии. Одним из основных клинических симптомов туберозного склероза является наличие туберов в головном мозге. Данные образования характеризуются нарушениями кортикальной ламинации, появлением аномальных нейронов и выраженным глиозом. Известно, что количество кортикальных туберов коррелирует с развитием нейропсихиатрических расстройств, в том числе фармакорезистентной эпилепсии. В данной статье освещены вопросы молекулярной генетики туберозного склероза, приведена гистопатологическая характеристика кортикальных туберов, рассмотрен молекулярный механизм морфогенеза кортикальных туберов, а также приведены данные о связи этих образований с развитием неврологических проявлений и методах их лечения.

Tuberous sclerosis is an orphan autosomal dominant hereditary disease caused by inactivating mutations in the TSC1 or TSC2 genes, accompanied by hyperactivation of the mTOR signaling pathway, which is responsible for the regulation of growth, proliferation, cell survival, and autophagy. One of the main clinical symptoms of tuberous sclerosis is the formation of tubers in the brain. These formations are characterized by disorders of the cortical lamination, the appearance of abnormal neurons and severe gliosis. It is known that the presence of cortical tubers correlates with the development of neuropsychiatric disorders, including drug-resistant epilepsy. This article highlights the issues of molecular genetics of tuberous sclerosis, presents the histopathological characteristics of cortical tubers, considers mechanism of morphogenesis of cortical tubers, and also presents the data on relationship of these formations with the development of neurological manifestations and methods of their treatment.

кортикальные туберытуберозный склерозTSC1TSC2mTORэпилепсия

Malformations of Cortical DevelopmentTuberous SclerosisTuberous Sclerosis Complex 1 ProteinTuberous Sclerosis Complex 2 ProteinMechanistic Target of Rapamycin Complex 1Epilepsy

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The authors declare that there are no conflicts of interest present.