Revealing the potential role of hsa-miR-663a in modulating the PI3K-Akt signaling pathway via miRNA microarray in spinal muscular atrophy patient fibroblast-derived iPSCs

Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder due to deletion or mutation of survival motor neuron 1 (SMN1) gene. Although survival motor neuron 2 (SMN2) gene is still present in SMA patients, the production of full-length survival motor neuron (SMN) protein is insuf...

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Main Authors: Gandhi, Gayatri, Kodiappan, Radha, Abdullah, Syahril, Teoh, Hoon Koon, Tai, Lihui, Cheong, Soon Keng, Yeo, Wendy Wai Yeng
Format: Article
Language:English
Published: Oxford University Press 2024
Online Access:http://psasir.upm.edu.my/id/eprint/114222/1/114222.pdf
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author Gandhi, Gayatri
Kodiappan, Radha
Abdullah, Syahril
Teoh, Hoon Koon
Tai, Lihui
Cheong, Soon Keng
Yeo, Wendy Wai Yeng
author_facet Gandhi, Gayatri
Kodiappan, Radha
Abdullah, Syahril
Teoh, Hoon Koon
Tai, Lihui
Cheong, Soon Keng
Yeo, Wendy Wai Yeng
author_sort Gandhi, Gayatri
collection UPM
description Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder due to deletion or mutation of survival motor neuron 1 (SMN1) gene. Although survival motor neuron 2 (SMN2) gene is still present in SMA patients, the production of full-length survival motor neuron (SMN) protein is insufficient owing to missing or mutated SMN1. No current disease-modifying therapies can cure SMA. The aim of this study was to explore microRNA (miRNA)-based therapies that may serve as a potential target for therapeutic intervention in delaying SMA progression or as treatment. The study screened for potentially dysregulated miRNAs in SMA fibroblast-derived iPSCs using miRNA microarray. Results from the miRNA microarray were validated using quantitative reverse transcription polymerase chain reaction. Bioinformatics analysis using various databases was performed to predict the potential putative gene targeted by hsa-miR-663a. The findings showed differential expression of hsa-miR-663a in SMA patients in relation to a healthy control. Bioinformatics analysis identified GNG7, IGF2, and TNN genes that were targeted by hsa-miR-663a to be involved in the PI3K-AKT pathway, which may be associated with disease progression in SMA. Thus, this study suggests the potential role of hsa-miR-663a as therapeutic target for the treatment of SMA patients in the near future. © 2024 The Author(s).
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spelling upm.eprints-1142222025-01-10T07:09:20Z http://psasir.upm.edu.my/id/eprint/114222/ Revealing the potential role of hsa-miR-663a in modulating the PI3K-Akt signaling pathway via miRNA microarray in spinal muscular atrophy patient fibroblast-derived iPSCs Gandhi, Gayatri Kodiappan, Radha Abdullah, Syahril Teoh, Hoon Koon Tai, Lihui Cheong, Soon Keng Yeo, Wendy Wai Yeng Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder due to deletion or mutation of survival motor neuron 1 (SMN1) gene. Although survival motor neuron 2 (SMN2) gene is still present in SMA patients, the production of full-length survival motor neuron (SMN) protein is insufficient owing to missing or mutated SMN1. No current disease-modifying therapies can cure SMA. The aim of this study was to explore microRNA (miRNA)-based therapies that may serve as a potential target for therapeutic intervention in delaying SMA progression or as treatment. The study screened for potentially dysregulated miRNAs in SMA fibroblast-derived iPSCs using miRNA microarray. Results from the miRNA microarray were validated using quantitative reverse transcription polymerase chain reaction. Bioinformatics analysis using various databases was performed to predict the potential putative gene targeted by hsa-miR-663a. The findings showed differential expression of hsa-miR-663a in SMA patients in relation to a healthy control. Bioinformatics analysis identified GNG7, IGF2, and TNN genes that were targeted by hsa-miR-663a to be involved in the PI3K-AKT pathway, which may be associated with disease progression in SMA. Thus, this study suggests the potential role of hsa-miR-663a as therapeutic target for the treatment of SMA patients in the near future. © 2024 The Author(s). Oxford University Press 2024-06-18 Article PeerReviewed text en http://psasir.upm.edu.my/id/eprint/114222/1/114222.pdf Gandhi, Gayatri and Kodiappan, Radha and Abdullah, Syahril and Teoh, Hoon Koon and Tai, Lihui and Cheong, Soon Keng and Yeo, Wendy Wai Yeng (2024) Revealing the potential role of hsa-miR-663a in modulating the PI3K-Akt signaling pathway via miRNA microarray in spinal muscular atrophy patient fibroblast-derived iPSCs. Journal of Neuropathology and Experimental Neurology, 83 (10). pp. 822-832. ISSN 0022-3069; eISSN: 1554-6578 https://academic.oup.com/jnen/article/83/10/822/7696000 10.1093/jnen/nlae065
spellingShingle Gandhi, Gayatri
Kodiappan, Radha
Abdullah, Syahril
Teoh, Hoon Koon
Tai, Lihui
Cheong, Soon Keng
Yeo, Wendy Wai Yeng
Revealing the potential role of hsa-miR-663a in modulating the PI3K-Akt signaling pathway via miRNA microarray in spinal muscular atrophy patient fibroblast-derived iPSCs
title Revealing the potential role of hsa-miR-663a in modulating the PI3K-Akt signaling pathway via miRNA microarray in spinal muscular atrophy patient fibroblast-derived iPSCs
title_full Revealing the potential role of hsa-miR-663a in modulating the PI3K-Akt signaling pathway via miRNA microarray in spinal muscular atrophy patient fibroblast-derived iPSCs
title_fullStr Revealing the potential role of hsa-miR-663a in modulating the PI3K-Akt signaling pathway via miRNA microarray in spinal muscular atrophy patient fibroblast-derived iPSCs
title_full_unstemmed Revealing the potential role of hsa-miR-663a in modulating the PI3K-Akt signaling pathway via miRNA microarray in spinal muscular atrophy patient fibroblast-derived iPSCs
title_short Revealing the potential role of hsa-miR-663a in modulating the PI3K-Akt signaling pathway via miRNA microarray in spinal muscular atrophy patient fibroblast-derived iPSCs
title_sort revealing the potential role of hsa mir 663a in modulating the pi3k akt signaling pathway via mirna microarray in spinal muscular atrophy patient fibroblast derived ipscs
url http://psasir.upm.edu.my/id/eprint/114222/1/114222.pdf
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