References

medgen

Медицинская генетика

Medical Genetics

2073-7998

Publishing House «Genius Media» LLC

10.25557/2073-7998.2022.04.3-15

medgen-2049

Research Article

НАУЧНЫЙ ОБЗОР

REVIEW

Синдром Ли: клинические и молекулярно-генетические особенности, современные подходы к диагностике и терапии

Leigh syndrome: clinical and molecular genetic features, modern approaches to diagnosis and therapy

Кистол

Д. В.

Kistol

D. V.

denis1997_97@mail.ru

Цыганкова

П. Г.

Tsygankova

P. G.

noemail@neicon.ru

Захарова

Е. Ю.

Zakharova

E. Yu.

noemail@neicon.ru

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

2022

05072022

214315

2022

Кистол Д.В., Цыганкова П.Г., Захарова Е.Ю.

Kistol D.V., Tsygankova P.G., Zakharova E.Y.

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/2049

Митохондриальные заболевания - клинически и генетически гетерогенная группа заболеваний, возникающих в результате нарушения окислительного фосфорилирования в митохондриях. Одним из наиболее распространенных представителей этой группы среди пациентов детского возраста является синдром Ли или подострая некротизирующая энцефаломиелопатия - тяжелое нейродегенеративное заболевание, манифестирующее в раннем детском возрасте. Характерными нейрорадиологическими признаками являются двусторонняя симметричная гипоинтенсивность в базальных ганглиях на компьютерной томограмме или двусторонние симметричные гиперинтенсивные очаги в стволе головного мозга и/или базальных ганглиях на Т2-взвешенной магнитно-резонансной томограмме. В настоящее время известно более 80 генов, ответственных за развитие заболевания, что значительно затрудняет диагностику. В данном обзоре рассмотрены основные клинические и молекулярно-генетические особенности синдрома Ли, а также современные подходы возможной медикаментозной и этиотропной терапии. Представлен алгоритм комплексной диагностики синдрома Ли с учетом данных об особенностях спектра и частот мутаций у пациентов из России.

Mitochondrial diseases are clinically and genetically heterogeneous group of inherited diseases resulting from impaired oxidative phosphorylation in mitochondria. One of the most common representatives of this group among children is Leigh syndrome, or subacute necrotizing encephalomyelopathy, a severe neurodegenerative disease with manifestation in childhood. The characteristic neuroradiological features are bilateral symmetrical hypointensities in the basal ganglia on CT or bilateral symmetrical hyperintense lesions in the brainstem and/or basal ganglia on T2-weighted MRI. Currently, 80 genes are known that are responsible for the development of LS, which significantly complicates the diagnosis. In the review we provide clinical and molecular genetic features, current approaches in diagnostic and treatment for LS. Finally, an algorithm for the complex diagnosis of LS including regional aspects of mutational spectrum is described.

митохондриальные заболеваниясиндром Липодострая некротизирующая энцефаломиелопатиядыхательная цепь митохондрийгенная терапия

mitochondrial diseasesLeigh syndromesubacute necrotizing encephalomyelopathymitochondrial respiratory chaingene therapy

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