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MiR34 Contributes to Spinal Muscular Atrophy and AAV9-mediated Delivery of MiR34a Ameliorates the Motor Deficits in SMA Mice

ABSTRACT: MiR34 Contributes to Spinal Muscular Atrophy and AAV9-mediated Delivery of MiR34a Ameliorates the Motor Deficits in SMA Mice

PROVIDER: PRJNA949126 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR23977468.fastq.gz	Fastqsanger.gz
	SRR23977469.fastq.gz	Fastqsanger.gz
	SRR23977470.fastq.gz	Fastqsanger.gz
	SRR23977471.fastq.gz	Fastqsanger.gz
	SRR23977472.fastq.gz	Fastqsanger.gz

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MiR34 Contributes to Spinal Muscular Atrophy and AAV9-mediated Delivery of MiR34a Ameliorates the Motor Deficits in SMA Mice

Project description:MiR34 exhibits consistent downregulation during SMA progression in both human and rodent contexts. Mir34 family-knockout mice display axon swelling and reduced neuromuscular junction (NMJ) end-plates, recapitulating SMA pathology. MiR34 family may target synapse formation and several core pathways that are disrupted in SMA at early postnatal stages. We performed RNA seq on thoracic and lumbar spinal cord and compare gene expression profiles between P14 wild type (WT) and Mir34/449 triple knockout (TKO) mice.

2023-09-21 | GSE228244 | 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

Gene Expression Analysis of laser-microdissected motorneurons in 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. Stem cell transplantation could represent a therapeutic approach for motor neuron diseases such as SMA. We examined the theraputics effects of a spinal cord neural stem cell population and their ability to modify SMA phenotype. Microarray technology was used to assess the global gene expression profile of laser-microdissected motoneurons obtained by transplanted and veichle treated SMA, and wildtype mice. Keywords: Comparative Gene Expression Analysis

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Transcription profiling of mouse laser-microdissected motorneurons in a Spinal Muscular Atrophy model (SMA)

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MiR34 contributes to spinal muscular atrophy and AAV9-mediated delivery of MiR34a ameliorates the motor deficits in SMA mice.

Project description:Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by the selective loss of spinal motor neurons (MNs) and concomitant muscle weakness. Mutation of SMN1 is known to cause SMA, and restoring SMN protein levels via antisense oligonucleotide treatment is effective for ameliorating symptoms. However, this approach is hindered by exorbitant costs, invasive procedures, and poor treatment responses of some patients. Here, we seek to circumvent these hurdles by identifying reliable biomarkers that could predict treatment efficacy. We uncovered that MiR34 exhibits consistent downregulation during SMA progression in both human and rodent contexts. Importantly, Mir34 family-knockout mice display axon swelling and reduced neuromuscular junction (NMJ) endplates, recapitulating SMA pathology. Introducing MiR34a via scAAV9 improved the motor ability of SMNΔ7 mice, possibly by restoring NMJ endplate size. Finally, we observed a consistent decreasing trend in MiR34 family expression in the cerebrospinal fluid (CSF) of type I SMA patients during the loading phase of nusinersen treatment. Baseline CSF MiR34 levels before nusinersen injection proved predictive of patient motor skills 1 year later. Thus, we propose that MiR34 may serve as a biomarker of SMA since it is associated with the pathology and can help evaluate the therapeutic effects of nusinersen.

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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.

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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 β-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.

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Project description:Spinal muscular atrophy (SMA) is one of the most common inherited forms of neurological disease leading to infant mortality. Patients exhibit selective loss of lower motor neurons resulting in muscle weakness, paralysis, and often death. Although patient fibroblasts have been used extensively to study SMA, motor neurons have a unique anatomy and physiology which may underlie their vulnerability to the disease process. Here we report the generation of induced pluripotent stem (iPS) cells from skin fibroblast samples taken from a child with SMA. These cells expanded robustly in culture, maintained the disease genotype, and generated motor neurons that showed selective deficits compared to those derived from the childâs unaffected mother. This is the first study to show human iPS cells can be used to model the specific pathology seen in a genetically inherited disease. As such, it represents a promising resource to study disease mechanisms, screen novel drug compounds, and develop new therapies. Experiment Overall Design: A total of 10 samples were hybridized to the human genome U133 Plus 2.0 GeneChip arrays carrying 54,675 probe sets (Affimetrix). Experiment Overall Design: H1L, H7, H9, H13B, and H14A embryonic stem cells are controls for the iPS cells Experiment Overall Design: iPS(SMA) 3.5 and iPS(SMA)3.6 are from the patient. The clone iPS(SMA) 4.2. is from the parent.

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Induced pluripotent stem cells from a spinal muscular atrophy patient

Project description:Spinal muscular atrophy (SMA) is one of the most common inherited forms of neurological disease leading to infant mortality. Patients exhibit selective loss of lower motor neurons resulting in muscle weakness, paralysis, and often death. Although patient fibroblasts have been used extensively to study SMA, motor neurons have a unique anatomy and physiology which may underlie their vulnerability to the disease process. Here we report the generation of induced pluripotent stem (iPS) cells from skin fibroblast samples taken from a child with SMA. These cells expanded robustly in culture, maintained the disease genotype, and generated motor neurons that showed selective deficits compared to those derived from the child’s unaffected mother. This is the first study to show human iPS cells can be used to model the specific pathology seen in a genetically inherited disease. As such, it represents a promising resource to study disease mechanisms, screen novel drug compounds, and develop new therapies. Keywords: Affimetrix global gene expression for comparison on all 10 samples

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Multiomics profiling in Spinal Muscular Atrophy (SMA): Insights from longitudinal CSF analysis of patients under treatment with Nusinersen

Project description:Spinal Muscular Atrophy (SMA) is a rare neuromuscular disease caused by biallelic mutations in the SMN1 gene, leading to progressive muscle weakness due to degeneration of the anterior horn cells. Since 2017, SMA patients can be treated with the anti-sense oligonucleotide Nusinersen, which promotes alternative splicing of the SMN2 gene, by regular intrathecal injections. In this prospective study we applied metabol-, lipid-, and proteomic analysis to examine sequential CSF samples from 13 SMA patients and controls. This multiomic approach identified over 800 proteins and 400 small molecules including lipids. Multivariate analysis of multiomic data successfully discriminated between the CSF derived from SMA patients and control subjects. Lipidomic analysis revealed increased levels of cholesteryl esters and lyso-phospholipids, along with reduced levels of cholesterol and phospholipids in the CSF of SMA patients as compared to the healthy control group. This data, combined with results from functional assays, led us to conclude that SMA patients exhibit altered levels and function of HDL-like particles in the CSF. Notably, Nusinersen therapy was observed to reverse disease-specific profile changes towards a physiological state, potentially explicable by restoring HDL-function.

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