medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.1234/XXXX-XXXX-2016-7-3-10medgen-143Research ArticleНАУЧНЫЕ ОБЗОРЫREVIEWБиомаркеры в диагностике и мониторинге лечения болезней клеточных органеллBiomarkers in diagnosis and treatment monitoring for the cell organelles diseasesКрыловаТ. Д.KrylovaT. D.labnbo@yandex.ruПрошляковаТ. Ю.ProshlyakovaT. Y.noemail@neicon.ruБайдаковаГ. В.BaydakovaG. V.noemail@neicon.ruИткисЮ. С.ItkisY. S.noemail@neicon.ruКуркинаМ. В.KurkinaM. V.noemail@neicon.ruЗахароваЕ. Ю.ZakharovaE. Y.noemail@neicon.ruФГБНУ Медико-генетический научный центрРоссияResearch Centre for Medical GeneticsRussian Federation201607102016157310Copyright © Крылова Т.Д., Прошлякова Т.Ю., Байдакова Г.В., Иткис Ю.С., Куркина М.В., Захарова Е.Ю., 20162016Крылова Т.Д., Прошлякова Т.Ю., Байдакова Г.В., Иткис Ю.С., Куркина М.В., Захарова Е.Ю.Krylova T.D., Proshlyakova T.Y., Baydakova G.V., Itkis Y.S., Kurkina M.V., 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/143

Биомаркеры (БМ) - биологические молекулы, отражающие биологический процесс, связанный с клиническими проявлениями заболевания. В данном обзоре представлены современные данные о БМ для трех групп наследственных болезней обмена веществ, относящихся к болезням клеточных органелл - лизосомных болезней накопления (ЛБН), митохондриальных и пероксисомных заболеваний. Ферментная заместительная терапия и другие подходы к лечению уже существуют для ЛБН. Однако, за исключением болезни Гоше, на сегодняшний день известно лишь небольшое число биомаркеров, которые применяются для мониторинга ЛБН и других болезней клеточных органелл. Суммируя литературные данные, следует отметить, что биомаркеры с одной стороны играют важную роль в мониторинге состояния здоровья пациента после создания новых лекарственных препаратов - и, с другой стороны, создают предпосылки для лучшего понимания патогенеза заболеваний и создания новых подходов к их лечению.

Biomarkers (BM) are biological molecules that can indicate the presence of a biological process linked to the clinical manifestations of disease. This review was focused on present information about biomarkers for three groups of hereditary metabolic diseases related to the disorders of the cell organelles - lysosomal storage disorders (LSD), mitochondrial and peroxisomal disorders. Enzyme replacement therapy and other treatments are being introduced for lysosomal storage diseases (LSDs). However, apart from in Gaucher disease, there are currently very few biomarkers that are available to monitor LSDs and other disorders of cell’s organelles. In conclusion we can note, that biomarkers have a clear application in routine clinical monitoring after the developing of new drugs - and at the same time may provide opportunities for a better understanding of molecular pathogenesis of inherited diseases and developing of new treatments.

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