Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review
Abstract Background Retinoic acid-induced 1 (RAI1) is a dosage-sensitive gene implicated in a range of rare neuropsychiatric diseases. Methods This review provides a comprehensive overview of RAI1’s role, integrating both clinical and basic research on Smith–Magenis syndrome (SMS) and Potocki–Lupsk...
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Cambridge University Press
2025-01-01
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| Series: | Expert Reviews in Molecular Medicine |
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| Online Access: | https://www.cambridge.org/core/product/identifier/S1462399425000122/type/journal_article |
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| author | Tianmi Yang Dejiang Pang Chunyu Li Huifang Shang |
| author_facet | Tianmi Yang Dejiang Pang Chunyu Li Huifang Shang |
| author_sort | Tianmi Yang |
| collection | DOAJ |
| description | Abstract
Background
Retinoic acid-induced 1 (RAI1) is a dosage-sensitive gene implicated in a range of rare neuropsychiatric diseases.
Methods
This review provides a comprehensive overview of RAI1’s role, integrating both clinical and basic research on Smith–Magenis syndrome (SMS) and Potocki–Lupski syndrome (PTLS) while also summarising research progress on its involvement in spinocerebellar ataxia (SCA), autism spectrum disorder (ASD), schizophrenia, bipolar disorder and major depression. A systematic review of the literature was conducted using PubMed and EMBASE, following the PRISMA guidelines, with the protocol registered in PROSPERO (CRD42023474165).
Results
A total of 99 eligible studies on RAI1 were included. We presented detailed characterisations of SMS and PTLS patients, emphasising the crucial role of RAI1 haploinsufficiency and overexpression in their pathogenesis. Additionally, we summarised research progress on RAI1 in SCA, ASD, schizophrenia, bipolar disorder and major depression. Integrating findings from animal studies, particularly those examining the regulatory mechanisms of RAI1 in critical phenotypes, such as body weight, sleep and epilepsy, underscores the precise regulation of RAI1 expression in maintaining various nervous system functions.
Conclusions
Overall, this review contributes to the identification of RAI1-related neuropsychiatric diseases, with a particular emphasis on enhancing clinical diagnosis of SMS and PTLS in developing countries.
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| format | Article |
| id | doaj-art-500e87c6cb1a441ca0d8982c8987600b |
| institution | Kabale University |
| issn | 1462-3994 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Cambridge University Press |
| record_format | Article |
| series | Expert Reviews in Molecular Medicine |
| spelling | doaj-art-500e87c6cb1a441ca0d8982c8987600b2025-08-20T12:57:28ZengCambridge University PressExpert Reviews in Molecular Medicine1462-39942025-01-012710.1017/erm.2025.12Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic ReviewTianmi Yang0Dejiang Pang1Chunyu Li2Huifang Shang3https://orcid.org/0000-0003-0947-1151Department of Neurology, West China Hospital, Sichuan University, Sichuan, China Laboratory of Neurodegenerative Disorders, West China Hospital, https://ror.org/007mrxy13 Sichuan University , Sichuan, ChinaDepartment of Neurology, West China Hospital, Sichuan University, Sichuan, China Laboratory of Neurodegenerative Disorders, West China Hospital, https://ror.org/007mrxy13 Sichuan University , Sichuan, China National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Sichuan, ChinaDepartment of Neurology, West China Hospital, Sichuan University, Sichuan, China Laboratory of Neurodegenerative Disorders, West China Hospital, https://ror.org/007mrxy13 Sichuan University , Sichuan, China National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Sichuan, ChinaDepartment of Neurology, West China Hospital, Sichuan University, Sichuan, China Laboratory of Neurodegenerative Disorders, West China Hospital, https://ror.org/007mrxy13 Sichuan University , Sichuan, China National Clinical Research Center for Geriatrics, West China Hospital, Sichuan University, Sichuan, ChinaAbstract Background Retinoic acid-induced 1 (RAI1) is a dosage-sensitive gene implicated in a range of rare neuropsychiatric diseases. Methods This review provides a comprehensive overview of RAI1’s role, integrating both clinical and basic research on Smith–Magenis syndrome (SMS) and Potocki–Lupski syndrome (PTLS) while also summarising research progress on its involvement in spinocerebellar ataxia (SCA), autism spectrum disorder (ASD), schizophrenia, bipolar disorder and major depression. A systematic review of the literature was conducted using PubMed and EMBASE, following the PRISMA guidelines, with the protocol registered in PROSPERO (CRD42023474165). Results A total of 99 eligible studies on RAI1 were included. We presented detailed characterisations of SMS and PTLS patients, emphasising the crucial role of RAI1 haploinsufficiency and overexpression in their pathogenesis. Additionally, we summarised research progress on RAI1 in SCA, ASD, schizophrenia, bipolar disorder and major depression. Integrating findings from animal studies, particularly those examining the regulatory mechanisms of RAI1 in critical phenotypes, such as body weight, sleep and epilepsy, underscores the precise regulation of RAI1 expression in maintaining various nervous system functions. Conclusions Overall, this review contributes to the identification of RAI1-related neuropsychiatric diseases, with a particular emphasis on enhancing clinical diagnosis of SMS and PTLS in developing countries. https://www.cambridge.org/core/product/identifier/S1462399425000122/type/journal_articleneuropsychiatric diseasesPotocki–Lupski syndromeRAI1retinoic acid-induced 1Smith–Magenis syndromesystematic review |
| spellingShingle | Tianmi Yang Dejiang Pang Chunyu Li Huifang Shang Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review Expert Reviews in Molecular Medicine neuropsychiatric diseases Potocki–Lupski syndrome RAI1 retinoic acid-induced 1 Smith–Magenis syndrome systematic review |
| title | Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review |
| title_full | Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review |
| title_fullStr | Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review |
| title_full_unstemmed | Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review |
| title_short | Retinoic Acid-Induced 1 Gene and Neuropsychiatric Diseases: A Systematic Review |
| title_sort | retinoic acid induced 1 gene and neuropsychiatric diseases a systematic review |
| topic | neuropsychiatric diseases Potocki–Lupski syndrome RAI1 retinoic acid-induced 1 Smith–Magenis syndrome systematic review |
| url | https://www.cambridge.org/core/product/identifier/S1462399425000122/type/journal_article |
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