Prospects of etiopathogenetic treatment of Huntington’s disease
O. B. Kondakova,
S. V. Demyanov,
A. V. Krasivskaya,
G. V. Demyanov,
D. I. Grebenkin,
Yu. I. Davydova,
A. A. Lyalina,
E. R. Radkevich,
K. V. Savostyanov https://doi.org/10.17650/2222-8721-2023-13-1-22-32
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
Russian Federation
Russian Federation
Olga Borisovna Kondakova,
Build. 1, 2 Lomonosovskiy Prospekt, Moscow 119991
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
Russian Federation
Russian Federation
Build. 2, 8 Trubetskaya St., Moscow 119048
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
Russian Federation
Russian Federation
Build. 2, 8 Trubetskaya St., Moscow 119048
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
Russian Federation
Russian Federation
Build. 2, 8 Trubetskaya St., Moscow 119048
D. I. Grebenkin
National Medical Research Center for Children’s Health, Ministry of Health of Russia
Russian Federation
Russian Federation
Build. 1, 2 Lomonosovskiy Prospekt, Moscow 119991
Yu. I. Davydova
National Medical Research Center for Children’s Health, Ministry of Health of Russia
Russian Federation
Russian Federation
Build. 1, 2 Lomonosovskiy Prospekt, Moscow 119991
A. A. Lyalina
National Medical Research Center for Children’s Health, Ministry of Health of Russia
Russian Federation
Russian Federation
Build. 1, 2 Lomonosovskiy Prospekt, Moscow 119991
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
Russian Federation
Russian Federation
Build. 2, 8 Trubetskaya St., Moscow 119048
K. V. Savostyanov
National Medical Research Center for Children’s Health, Ministry of Health of Russia
Russian Federation
Russian Federation
Build. 1, 2 Lomonosovskiy Prospekt, Moscow 119991
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Review
For citations:
Kondakova O.B., Demyanov S.V., Krasivskaya A.V., Demyanov G.V., Grebenkin D.I., Davydova Yu.I., Lyalina A.A., Radkevich E.R., Savostyanov K.V. Prospects of etiopathogenetic treatment of Huntington’s disease. Neuromuscular Diseases. 2023;13(1):22-32. (In Russ.) https://doi.org/10.17650/2222-8721-2023-13-1-22-32
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