Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Skeletal muscle mitochondrial dysfunction in spinal muscular atrophy

ABSTRACT: Skeletal muscle mitochondrial dysfunction in spinal muscular atrophy

PROVIDER: PRJNA857643 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Similar Datasets

Mechanism of Mitochondrial Dysfunction in Spinal and Bulbar Muscular Atrophy

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

| PRJNA588038 | ENA

Skeletal muscle mitochondrial dysfunction in spinal muscular atrophy

Project description:The survival motor neuron 1 (SMN1) gene is the causative gene for the spinal muscular atrophy (SMA) disease, the first genetic cause of infant mortality. It affects primarily motor neurons which are the targets of the approved genetic therapies aimed to compensate for the loss of SMN1. However, the limitations of these therapies are now evident since they are not cures, and alternative strategies need to be investigated. Because of the ubiquitous and multifunctional roles of SMN1 in the cell, deeper understanding of the molecular mechanisms underlying intrinsic abnormalities of the different tissues affected by SMA is crucial for the development of new therapeutic approaches. Here we used a muscle specific genetic mouse model for the identification of key cellular processes associated to SMN1 loss, at single myofiber level. We found that mitochondrial dysfunction is a key pathogenetic event in SMA: mitochondria are abnormal with internal degenerated cristae. The ultrastructural changes are coincident with alterations in ROS levels by monoamine oxidase A and Ca2+ homeostasis. Interestingly, the improvements of the myopathic phenotype of the muscle-specific SMA model mice by transplantation of amniotic fluid stem (AFS) cells led to restore mitochondrial function. Our data suggest that a mitochondria-targeting therapy may represent a complementary and broad treatment strategy to further optimize the current treatment.

2023-03-08 | GSE207890 | GEO

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

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

2021-05-08 | GSE174056 | GEO

Transcription profiling of mouse spinal chord from a mouse model of severe spinal muscular atrophy

Project description:Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy

2009-12-07 | E-MEXP-2428 | 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]

| PRJNA588040 | ENA

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

Cell-mediated cytotoxicity surrounding the brain in spinal muscular atrophy

Project description:We here longitudinally investigated how spinal muscular atrophy (SMA) and nusinersen shaped local immune responses in the cerebrospinal fluid (CSF).

2024-04-20 | PXD051600 | Pride

The gene expression analysis of the spinal cord and skeletal muscle of SBMA (Spinal Bulbar Muscular Atrophy) model mice with or without pioglitazone (PG) treatment

Project description:To identify the gene expression changes by administering PG to SBMA model mice, we prepared total RNA samples from the spinal cords and skeletal muscles of transgenic mice carrying a full-length human AR with 97 CAGs (AR-97Q) that were treated with or without PG. 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 of AR-97Q mice by PG treatment. For non-treated and PG-treated groups, we examined the male mice at 13 weeks of age. RNA from the total spinal cord and skeletal muscle was isolated from three mice of each group.

2013-10-29 | E-GEOD-51807 | biostudies-arrayexpress

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

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

| PRJNA588043 | ENA