Consensus on gene replacement therapy for spinal muscular atrophy
https://doi.org/10.46563/2686-8997-2021-2-1-7-9
Abstract
Проксимальная спинальная мышечная атрофия (СМА), обусловленная мутациями в гене SMN1 (survival motoneuron — выживаемость мотонейронов), локализованном на длинном плече 5 хромосомы (5q), — тяжёлое инвалидизирующее нервно-мышечное заболевание с аутосомно-рецессивным типом наследования. Генетическая причина СМА — гомозиготные делеции или потеря функции в результате мутации в гене SMN1 [1]. Высокогомологичный резервный ген SMN2 обеспечивает производство только 10% полноценного белка SMN. Доказано, что большее количество копий гена SMN2 связано с более лёгкими фенотипами [2]. Распространённость проксимальной СМА составляет 1 случай на 6000–10 000 новорождённых [3].
About the Authors
S. B. Artemyeva
The Yu.E. Veltischev Research Clinical Institute of Pediatrics
Russian Federation
Russian Federation
E. D. Belousova
The Yu.E. Veltischev Research Clinical Institute of Pediatrics
Russian Federation
Russian Federation
D. V. Vlodavets
The Yu.E. Veltischeva Research Clinical Institute of Pediatrics; The Pediatric Faculty of the N.I. Pirogov Russian National Research University
Russian Federation
Russian Federation
V. I. Guzeva
The St. Petersburg State Pediatric Medical University
Russian Federation
Russian Federation
L. M. Kuzenkova
The Center for Child Psychoneurology; The National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
S. I. Kutsev
The Academician N.P. Bochkov Medico-Genetic Research Center
Russian Federation
Russian Federation
A. V. Marakhonov
The Academician N.P. Bochkov Medico-Genetic Research Center
Russian Federation
Russian Federation
N. L. Pechatnikova
The Municipal Center for Orphan and Other Rare Diseases in Children and Adolescents; The Morozov Children’s Clinical Hospital
Russian Federation
Russian Federation
A. V. Polyakov
The Academician N.P. Bochkov Medical and Genetic Research Center
Russian Federation
Russian Federation
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Review
For citations:
Artemyeva S.B., Belousova E.D., Vlodavets D.V., Guzeva V.I., Kuzenkova L.M., Kutsev S.I., Marakhonov A.V., Pechatnikova N.L., Polyakov A.V. Consensus on gene replacement therapy for spinal muscular atrophy. L.O. Badalyan Neurological Journal. 2021;2(1):7-9. (In Russ.) https://doi.org/10.46563/2686-8997-2021-2-1-7-9
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