Prospects of etiopathogenetic treatment of Huntington’s disease

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Abstract

Huntington’s disease is a serious inherited neurodegenerative disorder characterized by of motor, cognitive and psychiatric features. The disease is caused by an abnormally expanded CAG repeat expansion in the HTT gene and the production of mutant huntingtin protein.

The disease usually manifests in adulthood, but the manifestation in childhood and youth is also described, which is noted in 5–10 % of cases. The disease predominantly affects the neostriatum, resulting in a characteristic clinical picture.

The most promising approaches to etiotropic therapy of Huntington’s disease are a number of DNA- (CRISPR/Cas9 system) and RNA-directed methods (antisense oligonucleotides, RNA interference), methods that directly reduce the level of mutant gentingtin (chimera molecules), as well as approaches based on inactivating the DNA mismatch repair system using the FAN1 enzyme. 

About the authors

O. B. Kondakova

National Medical Research Center for Children’s Health, Ministry of Health of Russia

Author for correspondence.
Email: kondakova.ob@nczd.ru
ORCID iD: 0000-0002-6316-9992

Olga Borisovna Kondakova,

Build. 1, 2 Lomonosovskiy Prospekt, Moscow 119991

Russian Federation

S. V. Demyanov

I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0002-1893-7198

Build. 2, 8 Trubetskaya St., Moscow 119048

Russian Federation

A. V. Krasivskaya

I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0001-9971-8909

Build. 2, 8 Trubetskaya St., Moscow 119048

Russian Federation

G. V. Demyanov

I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0003-1584-4604

Build. 2, 8 Trubetskaya St., Moscow 119048

Russian Federation

D. I. Grebenkin

National Medical Research Center for Children’s Health, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0002-0551-5869

Build. 1, 2 Lomonosovskiy Prospekt, Moscow 119991

Russian Federation

Yu. I. Davydova

National Medical Research Center for Children’s Health, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0001-5978-854X

Build. 1, 2 Lomonosovskiy Prospekt, Moscow 119991

Russian Federation

A. A. Lyalina

National Medical Research Center for Children’s Health, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0001-5657-7851

Build. 1, 2 Lomonosovskiy Prospekt, Moscow 119991

Russian Federation

E. R. Radkevich

I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University), Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0003-0206-0114

Build. 2, 8 Trubetskaya St., Moscow 119048

Russian Federation

K. V. Savostyanov

National Medical Research Center for Children’s Health, Ministry of Health of Russia

Email: fake@neicon.ru
ORCID iD: 0000-0003-4885-4171

Build. 1, 2 Lomonosovskiy Prospekt, Moscow 119991

Russian Federation

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Copyright (c) 2023 Kondakova O.B., Demyanov S.V., Krasivskaya A.V., Demyanov G.V., Grebenkin D.I., Davydova Y.I., Lyalina A.A., Radkevich E.R., Savostyanov K.V.

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