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Preliminary insights into RNA in CSF of SMA patients after Nusinersen “loading dose”

ABSTRACT: Preliminary insights into RNA in CSF of SMA patients after Nusinersen “loading dose”

PROVIDER: PRJNA916710 | ENA |

REPOSITORIES: ENA

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			Action	DRS
	SRR22925129_1.fastq.gz	Fastqsanger.gz
	SRR22925129_2.fastq.gz	Fastqsanger.gz
	SRR22925130_1.fastq.gz	Fastqsanger.gz
	SRR22925130_2.fastq.gz	Fastqsanger.gz
	SRR22925131_1.fastq.gz	Fastqsanger.gz

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Preliminary insights into RNA in CSF of SMA patients after Nusinersen “loading dose”

Project description:Antisense oligonucleotide (ASO) nusinersen (Spinraza®) modulates the pre–mRNA splicing of the SMN2 gene, allowing rebalance of biologically active SMN. It is administered intrathecally via lumbar puncture after removing an equal amount of cerebrospinal fluid (CSF). Its effect was proven beneficial and approved since 2017 for SMA treatment. Since the direct effect of nusinersen on RNA metabolism, the aim of this project was to evaluate cell-free RNA (cfRNA) in CSF of SMA patients under ASOs treatment for biomarker discovery.

2023-07-03 | GSE221900 | GEO

Preliminary insights into RNA in CSF of pediatric SMA patients after 6 months of nusinersen.

Project description:BackgroundSpinal muscular atrophy (SMA) is a rare autosomal-recessive neurodegenerative disorder caused by mutations in survival motor neuron 1 (SMN1) gene, and consequent loss of function of SMN protein, which results in progressive loss of lower motor neurons, and muscular wasting. Antisense oligonucleotide (ASO) nusinersen (Spinraza®) modulates the pre-mRNA splicing of the SMN2 gene, allowing rebalance of biologically active SMN. It is administered intrathecally via lumbar puncture after removing an equal amount of cerebrospinal fluid (CSF). Its effect was proven beneficial and approved since 2017 for SMA treatment. Given the direct effect of nusinersen on RNA metabolism, the aim of this project was to evaluate cell-free RNA (cfRNA) in CSF of SMA patients under ASOs treatment for biomarker discovery.MethodsBy RNA-sequencing approach, RNA obtained from CSF of pediatric SMA type 2 and 3 patients was processed after 6 months of nusinersen treatment, at fifth intrathecal injection (T6), and compared to baseline (T0).ResultsWe observed the deregulation of cfRNAs in patients at T6 and we were able to classify these RNAs into disease specific, treatment specific and treatment dependent. Moreover, we subdivided patients into "homogeneous" and "heterogeneous" according to their gene expression pattern. The "heterogeneous" group showed peculiar activation of genes coding for ribosomal components, meaning that in these patients a different molecular effect of nusinersen is observable, even if this specific molecular response was not referable to a clinical pattern.ConclusionsThis study provides preliminary insights into modulation of gene expression dependent on nusinersen treatment and lays the foundation for biomarkers discovery.

| S-EPMC10498611 | biostudies-literature

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Project description:CSF

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Body size regulation and TGF-beta Sma/Mab pathway: sma L4 vs N2 L4

Project description:To find genes downstream of the TGF-beta Sma/Mab pathway associated with body size regulation in C. elegans. Three replicates comparing RNA from sma-2(e502) L4 whole animal with RNA from wild-type L4 whole animal, in which one is dye flipped. Plus one array comparing RNA from sma-4(e729) L4 whole animal with RNA from wild-type L4 whole animal.

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Project description:Proximal spinal muscular atrophy (SMA) is a neurodegenerative disorder associated with mutations of the survival motor neuron gene SMN and characterized by progressive paralysis caused by degeneration of α–motor neurons of the spinal cord. To better understand the effects of SMN gene defect in SMA skeletal muscle tissues we performed a transcriptional analysis of muscle specimens of patient affected by the two extreme forms of SMA: the most severe type I and the mild type III. Patients of both groups had a variable SMN2 copy number that did not correlate with phenotype severity. The two forms of SMA resulted with a distinct expression profile: in SMA III patients the reduced number of modified genes suggests a proximity to normal condition, whereas in SMA I patients there is highly deregulated picture of gene expression. Genes implicated in signal transduction were up regulated in SMA III condition whereas those typical of energy metabolism and muscle contraction were consistently down regulated in severe disease type. Microarray results were validated, and the expression pattern of gene networks involved in atrophy signaling were completed by RQ-PCR. The analysis shows that specific atrophy pathways are involved: IGF/PI3K/Akt and those regulating MNK1-2 (more precisely TNF-α/p38 MAPK and Ras/ERK pathways). The results suggest also a different picture of atrophy pathways in the two forms of SMA. In particular in SMA I muscles, p38 may be the protein synthesis regulator. Moreover SMA III profile appear to be the result of a more complex transcriptome given by the concurrent presence of atrophic and hyperthrophic fibers. This more favorable condition might be due to action of MTOR whose over expression in SMA III could lead to a compensative hypertrophy. Keywords: disease state analysis

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