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Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations

BACKGROUND: Congenital myasthenic syndromes (CMS) refer to a series of inherited disorders caused by defects in various proteins. Mutation in the collagen-like tail subunit of asymmetric acetylcholinesterase (COLQ) is the second-most common cause of CMS. However, data on pharmacological treatments a...

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Autores principales: Shao, Shuai, Shi, Guanzhong, Bi, Fang-Fang, Huang, Kun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bentham Science Publishers 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10472815/
https://www.ncbi.nlm.nih.gov/pubmed/36703579
http://dx.doi.org/10.2174/1570159X21666230126145652
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author Shao, Shuai
Shi, Guanzhong
Bi, Fang-Fang
Huang, Kun
author_facet Shao, Shuai
Shi, Guanzhong
Bi, Fang-Fang
Huang, Kun
author_sort Shao, Shuai
collection PubMed
description BACKGROUND: Congenital myasthenic syndromes (CMS) refer to a series of inherited disorders caused by defects in various proteins. Mutation in the collagen-like tail subunit of asymmetric acetylcholinesterase (COLQ) is the second-most common cause of CMS. However, data on pharmacological treatments are limited. OBJECTIVE: In this study, we reviewed related reports to determine the most appropriate pharmacological strategy for CMS caused by COLQ mutations. A literature review and meta-analysis were also performed. PubMed, MEDLINE, Web of Science, and Cochrane Library databases were searched to identify studies published in English before July 22, 2022. RESULTS: A total of 42 studies including 164 patients with CMS due to 72 different COLQ mutations were selected for evaluation. Most studies were case reports, and none were randomized clinical trials. Our meta-analysis revealed evidence that β-adrenergic agonists, including salbutamol and ephedrine, can be used as first-line pharmacological treatments for CMS patients with COLQ mutations, as 98.7% of patients (74/75) treated with β-adrenergic agonists showed positive effects. In addition, AChEIs should be avoided in CMS patients with COLQ mutations, as 90.5% (105/116) of patients treated with AChEIs showed either no or negative effects. CONCLUSION: (1) β-adrenergic agonist therapy is the first pharmacological strategy for treating CMS with COLQ mutations. (2) AChEIs should be avoided in patients with CMS with COLQ mutations.
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spelling pubmed-104728152023-11-18 Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations Shao, Shuai Shi, Guanzhong Bi, Fang-Fang Huang, Kun Curr Neuropharmacol Medicine, Neurology, Pharmacology, Neuroscience BACKGROUND: Congenital myasthenic syndromes (CMS) refer to a series of inherited disorders caused by defects in various proteins. Mutation in the collagen-like tail subunit of asymmetric acetylcholinesterase (COLQ) is the second-most common cause of CMS. However, data on pharmacological treatments are limited. OBJECTIVE: In this study, we reviewed related reports to determine the most appropriate pharmacological strategy for CMS caused by COLQ mutations. A literature review and meta-analysis were also performed. PubMed, MEDLINE, Web of Science, and Cochrane Library databases were searched to identify studies published in English before July 22, 2022. RESULTS: A total of 42 studies including 164 patients with CMS due to 72 different COLQ mutations were selected for evaluation. Most studies were case reports, and none were randomized clinical trials. Our meta-analysis revealed evidence that β-adrenergic agonists, including salbutamol and ephedrine, can be used as first-line pharmacological treatments for CMS patients with COLQ mutations, as 98.7% of patients (74/75) treated with β-adrenergic agonists showed positive effects. In addition, AChEIs should be avoided in CMS patients with COLQ mutations, as 90.5% (105/116) of patients treated with AChEIs showed either no or negative effects. CONCLUSION: (1) β-adrenergic agonist therapy is the first pharmacological strategy for treating CMS with COLQ mutations. (2) AChEIs should be avoided in patients with CMS with COLQ mutations. Bentham Science Publishers 2023-05-18 2023-05-18 /pmc/articles/PMC10472815/ /pubmed/36703579 http://dx.doi.org/10.2174/1570159X21666230126145652 Text en © 2023 Bentham Science Publishers https://creativecommons.org/licenses/by/4.0/© 2023 The Author(s). Published by Bentham Science Publisher. This is an open access article published under CC BY 4.0 https://creativecommons.org/licenses/by/4.0/legalcode)
spellingShingle Medicine, Neurology, Pharmacology, Neuroscience
Shao, Shuai
Shi, Guanzhong
Bi, Fang-Fang
Huang, Kun
Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations
title Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations
title_full Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations
title_fullStr Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations
title_full_unstemmed Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations
title_short Pharmacological Treatments for Congenital Myasthenic Syndromes Caused by COLQ Mutations
title_sort pharmacological treatments for congenital myasthenic syndromes caused by colq mutations
topic Medicine, Neurology, Pharmacology, Neuroscience
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10472815/
https://www.ncbi.nlm.nih.gov/pubmed/36703579
http://dx.doi.org/10.2174/1570159X21666230126145652
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