Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Biomarkers of Immune Dysregulation and Post-Treatment Inflammation in Spinal Muscular Atrophy

ABSTRACT: Biomarkers of Immune Dysregulation and Post-Treatment Inflammation in Spinal Muscular Atrophy

PROVIDER: PRJNA1226588 | ENA |

REPOSITORIES: ENA

ACCESS DATA

Json Xml

Similar Datasets

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

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

Biomarkers of Immune Dysregulation and Post-Treatment Inflammation in Spinal Muscular Atrophy

Project description:Spinal Muscular Atrophy (SMA) is a neurodegenerative disorder primarily affecting motor neurons, but immune dysfunction may contribute to disease progression and treatment response. While AAV9-delivered SMN1 gene therapy (e.g., Zolgensma) improves survival, long-term motor outcomes remain variable. This study integrates bulk and single-cell RNA sequencing (scRNA-seq) to define immune dysregulation in SMA. We analyzed peripheral blood from infants with SMA (n = 7 for bulk RNA-seq; n = 4 for scRNA-seq, <25 mo of age) along with age-matched healthy controls (n = 4 for bulk RNA-seq; n = 6 for scRNA-seq). We profiled differentially expressed genes, immune pathways, cell–cell interactions, and gene regulatory networks. SMA samples showed distinct transcriptomic signatures and elevated immune activation compared to controls. NECTIN1 was identified as a transcriptomic biomarker of disease progression, while HSPA7 was validated from prior reports. A 6- to 7-mo inflection point marked a transition from metabolic regulation to immune activation in SMA infants. NF-κB–related inflammatory gene expression was significantly elevated post–gene therapy relative to both pretreatment and healthy controls, with IL1B and RNF19B emerging as key transcriptomic mediators. scRNA-seq revealed early dysfunction and G1-phase arrest in CD4+ T-cells, along with a switch to RELB-mediated noncanonical NF-κB signaling. In symptomatic infants, CD8+ T-cells showed higher proliferation and exhaustion, with co-upregulation of TBX21 and EOMES, genes consistent with chronic stimulation and a trajectory toward terminal differentiation. Immune dysregulation is a central feature of SMA and may influence treatment response. These findings support future development of adjunct immunomodulatory strategies to enhance gene therapy efficacy and suggest that immune signatures may correlate with motor function outcomes.

2025-09-09 | GSE290216 | GEO

Skeletal muscle mitochondrial dysfunction in spinal muscular atrophy

Project description:Skeletal muscle mitochondrial dysfunction in spinal muscular atrophy

| PRJNA857643 | ENA

Increased Systemic HSP70B Levels in Spinal Muscular Atrophy Infants

Project description:Increased Systemic HSP70B Levels in Spinal Muscular Atrophy Infants

| PRJNA728070 | ENA

Pathologic alteration in the proteome of synaptosomes from the mouse model of spinal muscular atrophy

Project description:In this study, label-free quantitative proteomic analysis was performed using the Smn 2B/- mouse model to identify and investigate significant changes in protein abundance that may be related to the pathogenesis and neurodegeneration oberved in spinal muscular atrophy (SMA)

2019-07-04 | PXD012850 | Pride

SMN deficiency perturbs monoamine neurotransmitter metabolism in spinal muscular atrophy

Project description:<p>Beyond motor neuron degeneration, homozygous mutations in the survival motor neuron 1 (SMN1) gene cause multiorgan and metabolic defects in patients with spinal muscular atrophy (SMA). However, the precise biochemical features of these alterations and the age of onset in the brain and peripheral organs remain unclear. Using untargeted NMR-based metabolomics in SMA mice, we identify cerebral and hepatic abnormalities related to energy homeostasis pathways and amino acid metabolism, emerging already at postnatal day 3 (P3) in the liver. Through HPLC, we find that SMN deficiency induces a drop in cerebral norepinephrine levels in overt symptomatic SMA mice at P11, affecting the mRNA and protein expression of key genes regulating monoamine metabolism, including aromatic L-amino acid decarboxylase (AADC), dopamine beta-hydroxylase (DβH) and monoamine oxidase A (MAO-A). In support of the translational value of our preclinical observations, we also discovered that SMN upregulation increases cerebrospinal fluid norepinephrine concentration in Nusinersen-treated SMA1 patients. Our findings highlight a previously unrecognized harmful influence of low SMN levels on the expression of critical enzymes involved in monoamine metabolism, suggesting that SMN-inducing therapies may modulate catecholamine neurotransmission. These results may also be relevant for setting therapeutic approaches to counteract peripheral metabolic defects in SMA. </p>

2023-11-27 | MTBLS8784 | MetaboLights

Gene Expression Analysis of spinal cord obtained from a mouse model of severe Spinal Muscular Atrophy (SMA)

Project description:Spinal Muscular Atrophy (SMA) is an autosomal recessive motor neuron disease and is the second most common genetic disorder leading to death in childhood. No effective therapy is currently available. It has been suggested that M-NM-2-lactam antibiotics such as ceftriaxone may offer neuroprotection in motoneuron disease. We investigated the therapeutic effect of ceftriaxone in a murine model of SMA. Microarray technology was used to assess the global gene expression profile of spinal cord obtained by ceftriaxone-treated and vehicle treated SMA mice. Comparative Gene Expression Analysis. The microarray data derived from three different groups: wildtype controls, transgenic SMA (vehicle treated) and ceftriaxone-treated SMA mice. Each population consists of four RNA profiling samples.

2013-12-01 | E-GEOD-19674 | biostudies-arrayexpress

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data