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Mechanism of Mitochondrial Dysfunction in Spinal and Bulbar Muscular Atrophy [AR ChIP-seq]

ABSTRACT: Mechanism of Mitochondrial Dysfunction in Spinal and Bulbar Muscular Atrophy [AR ChIP-seq]

PROVIDER: PRJNA588043 | ENA |

REPOSITORIES: ENA

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Mechanism of Mitochondrial Dysfunction in Spinal and Bulbar Muscular Atrophy [AR ChIP-seq]

Project description:Spinal and bulbar muscular atrophy (SBMA) is a neuromuscular disorder caused by a polyglutamine expansion in the androgen receptor (AR). Previous studies have shown that transcriptional dysregulation and mitochondrial impairment occur in SBMA. We used gene-expression analysis and ChIP-sequencing to map transcriptional changes in SBMA induced pluripotent stem cell-derived motor neurons. The SBMA cells had decreased expression of genes encoding electron transport chain subunits and other metabolic proteins, associated with reduced histone acetylation which may be contributing to mitochondrial dysfunction. AR ChIP-sequencing results indicate that this is not a direct transcriptional effect of mutant AR on mitochondrial gene expression. Furthermore, we found decreased acetyl-CoA, and pyruvate supplementation to correct this deficiency improved mitochondrial function and SBMA motor neuron viability. We propose that epigenetic dysregulation of metabolic genes contributes to reduced mitochondrial ATP production. Our results show a molecular link between altered epigenetic regulation and mitochondrial metabolism that contributes to neurodegeneration.

2020-08-10 | GSE140017 | GEO

Mechanism of Mitochondrial Dysfunction in Spinal and Bulbar Muscular Atrophy

Project description:Mechanism of Mitochondrial Dysfunction in Spinal and Bulbar Muscular Atrophy

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Mechanism of Mitochondrial Dysfunction in Spinal and Bulbar Muscular Atrophy [RNA-seq]

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Mechanism of Mitochondrial Dysfunction in Spinal and Bulbar Muscular Atrophy [ChIP-seq]

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Transcriptomic profiling of spinal and bulbar muscular atrophy cultured embryonic motor neurons

Project description:Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy’s Disease, is a slowly progressive adult-onset neuromuscular disease which results from a polyglutamine (polyQ) encoding CAG repeat expansion within the androgen receptor gene (AR). Despite the ubiquitous expression of the androgen receptor, it is unclear why motor neurons selectively degenerate and there are no effective treatments or disease modifying therapies for this debilitating disease. In order to identify potential therapeutic targets, we set out to establish the genes and molecular pathways involved in early motor neuron dysfunction in SBMA. We therefore undertook global transcriptomic profiling of cultured primary embryonic motor neurons from the spinal cord of AR100 mice, which model SBMA.. Four biological replicate samples were used for genome wide analysis using Affymetrix 430 v2.0 mouse arrays. Data was normalised using therobust multichip average (RMA) algorithm.

2019-05-02 | E-MTAB-6986 | biostudies-arrayexpress

Mechanism of Mitochondrial Dysfunction in Spinal and Bulbar Muscular Atrophy [RNA-seq]

Project description:Mechanism of Mitochondrial Dysfunction in Spinal and Bulbar Muscular Atrophy [RNA-seq]

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Mechanism of Mitochondrial Dysfunction in Spinal and Bulbar Muscular Atrophy [ChIP-seq]

Project description:Mechanism of Mitochondrial Dysfunction in Spinal and Bulbar Muscular Atrophy [ChIP-seq]

| PRJNA588042 | ENA

Transcription profiling of muscular and neuronal mouse mutant: spinal muscular atrophy(SMA)

Project description:Study of gene expression profiles of muscular and neuronal mouse mutant of spinal muscular atrophy(SMA). Pre and post symptomatic stage disease have been analyzed.

2005-05-20 | E-MEXP-131 | biostudies-arrayexpress

The gene expression analysis of the spinal cord of SBMA (Spinal Bulbar Muscular Atrophy) model mice

Project description:To identify the gene expression changes that are specific to SBMA, we prepared total mRNA samples from the spinal cords of transgenic mice carrying a full-length human AR with 97 CAGs (AR-97Q), transgenic mice bearing a wild-type allele of AR with 24 CAGs (AR-24Q), and the wild-type littermates of the AR-97Q mice (C57BL/6). We used AR-97Q (Line #7-8) male mice because they show progressive muscular atrophy and weakness as well as SBMA-like pathology such as the accumulation of the pathogenic androgen receptor in the nucleus of motor neurons. Using microarray analysis, we identified the genes with significantly altered expression among the three types of mice. For each group, we examined the male mice at 7-9, 10-12, and 13-15 weeks of age. These stages were chosen because the AR-97Q mice are generally asymptomatic at 7-9 weeks of age (before-onset stage), present with mild motor impairment at 10-12 weeks (early stage), and are severely weakened with profound muscle atrophy at 13-15 weeks (advanced stage). RNA from the total spinal cord, excluding the dorsal root ganglia, was isolated from three mice of each genotype at each stage. For wild-type, pooled sample for three mice were used in each stage.

2012-08-03 | E-GEOD-39865 | biostudies-arrayexpress

Increased Systemic HSP70B Levels in Spinal Muscular Atrophy Infants

Project description:RNA sequencing in whole blood from spinal muscular atrophy patients and healthy control infants

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