Reduced mesencephalic astrocyte–derived neurotrophic factor expression by mutant androgen receptor contributes to neurodegeneration in a model of spinal and bulbar muscular atrophy pathology

Spinal and bulbar muscular atrophy is a neurodegenerative disease caused by extended CAG trinucleotide repeats in the androgen receptor gene, which encodes a ligand-dependent transcription factor. The mutant androgen receptor protein, characterized by polyglutamine expansion, is prone to misfolding...

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Main Authors: Yiyang Qin, Wenzhen Zhu, Tingting Guo, Yiran Zhang, Tingting Xing, Peng Yin, Shihua Li, Xiao-Jiang Li, Su Yang
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2025-09-01
Series:Neural Regeneration Research
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Online Access:https://journals.lww.com/10.4103/NRR.NRR-D-23-01666
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author Yiyang Qin
Wenzhen Zhu
Tingting Guo
Yiran Zhang
Tingting Xing
Peng Yin
Shihua Li
Xiao-Jiang Li
Su Yang
author_facet Yiyang Qin
Wenzhen Zhu
Tingting Guo
Yiran Zhang
Tingting Xing
Peng Yin
Shihua Li
Xiao-Jiang Li
Su Yang
author_sort Yiyang Qin
collection DOAJ
description Spinal and bulbar muscular atrophy is a neurodegenerative disease caused by extended CAG trinucleotide repeats in the androgen receptor gene, which encodes a ligand-dependent transcription factor. The mutant androgen receptor protein, characterized by polyglutamine expansion, is prone to misfolding and forms aggregates in both the nucleus and cytoplasm in the brain in spinal and bulbar muscular atrophy patients. These aggregates alter protein–protein interactions and compromise transcriptional activity. In this study, we reported that in both cultured N2a cells and mouse brain, mutant androgen receptor with polyglutamine expansion causes reduced expression of mesencephalic astrocyte-derived neurotrophic factor. Overexpression of mesencephalic astrocyte-derived neurotrophic factor ameliorated the neurotoxicity of mutant androgen receptor through the inhibition of mutant androgen receptor aggregation. Conversely, knocking down endogenous mesencephalic astrocyte-derived neurotrophic factor in the mouse brain exacerbated neuronal damage and mutant androgen receptor aggregation. Our findings suggest that inhibition of mesencephalic astrocyte-derived neurotrophic factor expression by mutant androgen receptor is a potential mechanism underlying neurodegeneration in spinal and bulbar muscular atrophy.
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institution OA Journals
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publishDate 2025-09-01
publisher Wolters Kluwer Medknow Publications
record_format Article
series Neural Regeneration Research
spelling doaj-art-b17b54e03c164c3cb2ceeca9862274de2025-08-20T02:18:01ZengWolters Kluwer Medknow PublicationsNeural Regeneration Research1673-53741876-79582025-09-012092655266610.4103/NRR.NRR-D-23-01666Reduced mesencephalic astrocyte–derived neurotrophic factor expression by mutant androgen receptor contributes to neurodegeneration in a model of spinal and bulbar muscular atrophy pathologyYiyang QinWenzhen ZhuTingting GuoYiran ZhangTingting XingPeng YinShihua LiXiao-Jiang LiSu YangSpinal and bulbar muscular atrophy is a neurodegenerative disease caused by extended CAG trinucleotide repeats in the androgen receptor gene, which encodes a ligand-dependent transcription factor. The mutant androgen receptor protein, characterized by polyglutamine expansion, is prone to misfolding and forms aggregates in both the nucleus and cytoplasm in the brain in spinal and bulbar muscular atrophy patients. These aggregates alter protein–protein interactions and compromise transcriptional activity. In this study, we reported that in both cultured N2a cells and mouse brain, mutant androgen receptor with polyglutamine expansion causes reduced expression of mesencephalic astrocyte-derived neurotrophic factor. Overexpression of mesencephalic astrocyte-derived neurotrophic factor ameliorated the neurotoxicity of mutant androgen receptor through the inhibition of mutant androgen receptor aggregation. Conversely, knocking down endogenous mesencephalic astrocyte-derived neurotrophic factor in the mouse brain exacerbated neuronal damage and mutant androgen receptor aggregation. Our findings suggest that inhibition of mesencephalic astrocyte-derived neurotrophic factor expression by mutant androgen receptor is a potential mechanism underlying neurodegeneration in spinal and bulbar muscular atrophy.https://journals.lww.com/10.4103/NRR.NRR-D-23-01666androgen receptormesencephalic astrocyte-derived neurotrophic factormouse modelneurodegenerationneuronal lossneurotrophic factorpolyglutamine diseaseprotein misfoldingspinal and bulbar muscular atrophytranscription factor
spellingShingle Yiyang Qin
Wenzhen Zhu
Tingting Guo
Yiran Zhang
Tingting Xing
Peng Yin
Shihua Li
Xiao-Jiang Li
Su Yang
Reduced mesencephalic astrocyte–derived neurotrophic factor expression by mutant androgen receptor contributes to neurodegeneration in a model of spinal and bulbar muscular atrophy pathology
Neural Regeneration Research
androgen receptor
mesencephalic astrocyte-derived neurotrophic factor
mouse model
neurodegeneration
neuronal loss
neurotrophic factor
polyglutamine disease
protein misfolding
spinal and bulbar muscular atrophy
transcription factor
title Reduced mesencephalic astrocyte–derived neurotrophic factor expression by mutant androgen receptor contributes to neurodegeneration in a model of spinal and bulbar muscular atrophy pathology
title_full Reduced mesencephalic astrocyte–derived neurotrophic factor expression by mutant androgen receptor contributes to neurodegeneration in a model of spinal and bulbar muscular atrophy pathology
title_fullStr Reduced mesencephalic astrocyte–derived neurotrophic factor expression by mutant androgen receptor contributes to neurodegeneration in a model of spinal and bulbar muscular atrophy pathology
title_full_unstemmed Reduced mesencephalic astrocyte–derived neurotrophic factor expression by mutant androgen receptor contributes to neurodegeneration in a model of spinal and bulbar muscular atrophy pathology
title_short Reduced mesencephalic astrocyte–derived neurotrophic factor expression by mutant androgen receptor contributes to neurodegeneration in a model of spinal and bulbar muscular atrophy pathology
title_sort reduced mesencephalic astrocyte derived neurotrophic factor expression by mutant androgen receptor contributes to neurodegeneration in a model of spinal and bulbar muscular atrophy pathology
topic androgen receptor
mesencephalic astrocyte-derived neurotrophic factor
mouse model
neurodegeneration
neuronal loss
neurotrophic factor
polyglutamine disease
protein misfolding
spinal and bulbar muscular atrophy
transcription factor
url https://journals.lww.com/10.4103/NRR.NRR-D-23-01666
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