Cargando…
miRNA profiling as a complementary diagnostic tool for amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS), the most prevalent motor neuron disease characterized by its complex genetic structure, lacks a single diagnostic test capable of providing a conclusive diagnosis. In order to demonstrate the potential for genetic diagnosis and shed light on the pathogenic role o...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10447559/ https://www.ncbi.nlm.nih.gov/pubmed/37612427 http://dx.doi.org/10.1038/s41598-023-40879-y |
_version_ | 1785094579200983040 |
---|---|
author | Cheng, Jack Ho, Wen-Kuang Wu, Bor-Tsang Liu, Hsin-Ping Lin, Wei-Yong |
author_facet | Cheng, Jack Ho, Wen-Kuang Wu, Bor-Tsang Liu, Hsin-Ping Lin, Wei-Yong |
author_sort | Cheng, Jack |
collection | PubMed |
description | Amyotrophic lateral sclerosis (ALS), the most prevalent motor neuron disease characterized by its complex genetic structure, lacks a single diagnostic test capable of providing a conclusive diagnosis. In order to demonstrate the potential for genetic diagnosis and shed light on the pathogenic role of miRNAs in ALS, we developed an ALS diagnostic rule by training the model using 80% of a miRNA profiling dataset consisting of 253 ALS samples and 103 control samples. Subsequently, we validated the diagnostic rule using the remaining 20% of unseen samples. The diagnostic rule we developed includes miR-205-5p, miR-206, miR-376a-5p, miR-412-5p, miR-3927-3p, miR-4701-3p, miR-6763-5p, and miR-6801-3p. Remarkably, the rule achieved an 82% true positive rate and a 73% true negative rate when predicting the unseen samples. Furthermore, the identified miRNAs target 21 genes in the PI3K-Akt pathway and 27 genes in the ALS pathway, including notable genes such as BCL2, NEFH, and OPTN. We propose that miRNA profiling may serve as a complementary diagnostic tool to supplement the clinical presentation and aid in the early recognition of ALS. |
format | Online Article Text |
id | pubmed-10447559 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Nature Publishing Group UK |
record_format | MEDLINE/PubMed |
spelling | pubmed-104475592023-08-25 miRNA profiling as a complementary diagnostic tool for amyotrophic lateral sclerosis Cheng, Jack Ho, Wen-Kuang Wu, Bor-Tsang Liu, Hsin-Ping Lin, Wei-Yong Sci Rep Article Amyotrophic lateral sclerosis (ALS), the most prevalent motor neuron disease characterized by its complex genetic structure, lacks a single diagnostic test capable of providing a conclusive diagnosis. In order to demonstrate the potential for genetic diagnosis and shed light on the pathogenic role of miRNAs in ALS, we developed an ALS diagnostic rule by training the model using 80% of a miRNA profiling dataset consisting of 253 ALS samples and 103 control samples. Subsequently, we validated the diagnostic rule using the remaining 20% of unseen samples. The diagnostic rule we developed includes miR-205-5p, miR-206, miR-376a-5p, miR-412-5p, miR-3927-3p, miR-4701-3p, miR-6763-5p, and miR-6801-3p. Remarkably, the rule achieved an 82% true positive rate and a 73% true negative rate when predicting the unseen samples. Furthermore, the identified miRNAs target 21 genes in the PI3K-Akt pathway and 27 genes in the ALS pathway, including notable genes such as BCL2, NEFH, and OPTN. We propose that miRNA profiling may serve as a complementary diagnostic tool to supplement the clinical presentation and aid in the early recognition of ALS. Nature Publishing Group UK 2023-08-23 /pmc/articles/PMC10447559/ /pubmed/37612427 http://dx.doi.org/10.1038/s41598-023-40879-y Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Article Cheng, Jack Ho, Wen-Kuang Wu, Bor-Tsang Liu, Hsin-Ping Lin, Wei-Yong miRNA profiling as a complementary diagnostic tool for amyotrophic lateral sclerosis |
title | miRNA profiling as a complementary diagnostic tool for amyotrophic lateral sclerosis |
title_full | miRNA profiling as a complementary diagnostic tool for amyotrophic lateral sclerosis |
title_fullStr | miRNA profiling as a complementary diagnostic tool for amyotrophic lateral sclerosis |
title_full_unstemmed | miRNA profiling as a complementary diagnostic tool for amyotrophic lateral sclerosis |
title_short | miRNA profiling as a complementary diagnostic tool for amyotrophic lateral sclerosis |
title_sort | mirna profiling as a complementary diagnostic tool for amyotrophic lateral sclerosis |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10447559/ https://www.ncbi.nlm.nih.gov/pubmed/37612427 http://dx.doi.org/10.1038/s41598-023-40879-y |
work_keys_str_mv | AT chengjack mirnaprofilingasacomplementarydiagnostictoolforamyotrophiclateralsclerosis AT howenkuang mirnaprofilingasacomplementarydiagnostictoolforamyotrophiclateralsclerosis AT wubortsang mirnaprofilingasacomplementarydiagnostictoolforamyotrophiclateralsclerosis AT liuhsinping mirnaprofilingasacomplementarydiagnostictoolforamyotrophiclateralsclerosis AT linweiyong mirnaprofilingasacomplementarydiagnostictoolforamyotrophiclateralsclerosis |