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SLC6A1 and Neuropsychiatric Diseases: The Role of Mutations and Prospects for Treatment with Genome Editing Systems

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Abstract—

SLC6A1 (Solute Carrier Family 6 Member 1) is a gene encoding GAT1, the gamma-aminobutyric acid (GABA) transporter protein. GAT1 is responsible for GABA reuptake from the synaptic cleft and intercellular space. Mutations in the SLC6A1 gene can lead to impaired GABA regulation and are associated with epilepsy and a number of mental disorders. In this review, we discuss the role of GAT1 protein in GABAergic regulation and the association of mutations in SLC6A1 gene with epilepsy, autism spectrum disorders, intellectual disability, and schizophrenia, as well as prospects for their treatment with genome editing systems.

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Funding

E.S. Bukina, N.V. Kondratyev, and V.E. Golimbet were financially supported by the grant of the Russian Science Foundation no. 21-15-00124.

A.S. Artyuhov was supported by the SkolTech grant on Systems Biology.

E.S. Bukina and E.B. Dashinimaev were supported by the grant of the Ministry of Science and Higher Education, Center for High Precision Genomic Editing and Genetic Technologies for Biomedicine no. 075-15-2019-1789.

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Authors and Affiliations

  1. Sechenov First Moscow State Medical University, Ministry of Health of the Russian Federation, ul. Bol’shaya Pirogovskaya 2 str. 4, 119991, Moscow, Russia

    E. S. Bukina & S. V. Kozin

  2. Center for High Precision Genomic Editing and Genetic Technologies for Biomedicine, Pirogov Russian National Research Medical University, Moscow, Russia

    E. S. Bukina, A. S. Artyuhov & E. B. Dashinimaev

  3. Mental Health Research Center, Moscow, Russia

    N. V. Kondratyev & V. E. Golimbet

  4. Koltsov Institute of Developmental Biology, Russian Academy of Sciences, Moscow, Russia

    E. B. Dashinimaev

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  1. E. S. Bukina
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Bukina, E.S., Kondratyev, N.V., Kozin, S.V. et al. SLC6A1 and Neuropsychiatric Diseases: The Role of Mutations and Prospects for Treatment with Genome Editing Systems. Neurochem. J. 15, 376–389 (2021). https://doi.org/10.1134/S1819712421040048

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