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Evaluation of differential gene expression in patients with amyotrophic lateral sclerosis (ALS)

ABSTRACT: We compared gene expression profiles of ALS patients with normal patients and with multifocal motor neuropathy (MMN) patients.

ORGANISM(S): Homo sapiens

PROVIDER: GSE26276 | GEO | 2011/02/26

SECONDARY ACCESSION(S): PRJNA135143

REPOSITORIES: GEO

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Evaluation of differential gene expression in patients with amyotrophic lateral sclerosis (ALS)

Project description:We compared gene expression profiles of ALS patients with normal patients and with multifocal motor neuropathy (MMN) patients. Skeletal muscle specimens from 3 ALS patients, 3 MMN patients, and 3 control patients were used to find disease markers specifically expressed in ASL and MMN patients.

2011-02-26 | E-GEOD-26276 | biostudies-arrayexpress

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS)

Project description:Gene expression profiling has been performed on motor cortex and spinal cord homogenates and of sporadic ALS cases and controls, to identify genes and pathways differentially expressed in ALS. More recent studies have combined the use of laser capture microdissection (LCM) with gene expression profiling to isolate the motor neurons from the surrounding cells, such as microglia and astrocytes, in order to determine those genes differentially expressed in the vulnerable cell population â i.e. motor neuron. The aim of this study was to determine the gene expression profiles from a small subset of cases which all carry mutations in the CHMP2B gene. These mutations have been found to be associated with the lower motor neuron dominant variant of ALS. Expression profiles from isolated motor neurons in CHMP2B-related ALS cases were compared to those from control motor neurons, in order to establish the pathways implicated in CHMP2B-related motor neuronal cell death.

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Project description:Transcriptome-wide analysis of whole blood gene expression profiles of ALS patients, gender- and age-matched controls and patients diagnosed with diseases mimicking ALS at a tertiary referral center for motor neuron diseases.

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Project description:We performed gene expression profiles of spinal cord samples of ALS patients (30) and controls (10) in order to obtain transcriptomics information belonging to different brain regions of ALS patients. Motor cortex gene expression profiles of the same patients were previously submitted (E-MTAB-2325) and published.

2020-01-10 | E-MTAB-8635 | biostudies-arrayexpress

Transcription profiling of skeletal muscle from amyotrophic lateral sclerosis sod1(G86R) axotomized mice and control mice to monitor denervation-dependent gene expression in an Amyotrophic lateral sclerosis (ALS) mouse model

Project description:Amyotrophic lateral sclerosis (ALS) is a fatal adult-onset neuromuscular disorder characterized by the selective degeneration of upper and lower motor neurons, progressive muscle wasting and paralysis. To define the full set of alterations in gene expression in skeletal muscle during the course of the disease, we performed high-density oligonucleotide microarray analysis of gene expression in hind limb skeletal muscles of sod1(G86R) mice, one of the existing transgenic models of ALS. To monitor denervation-dependent gene expression, we determined the effects of short-term acute denervation on the muscle transcriptome after sciatic nerve axotomy.

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Olfactory proteomics in amyotrophic lateral sclerosis

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Identification of circular RNAs in amyotrophic lateral sclerosis II

Project description:Circular RNAs are abundant, covalently closed transcripts that arise in cells through back-splicing and display distinct expression patterns across cells and developmental stages. While their functions are largely unknown, their intrinsic stability has made them valuable biomarkers in diseases like cancer. Here, we set out to examine circRNA patterns in amyotrophic lateral sclerosis (ALS). By RNA-sequencing analysis, we first identified circRNAs and linear RNAs that were differentially abundant in skeletal muscle biopsies from ALS and normal individuals. Among these, 8 circRNAs were significantly elevated and 10 significantly reduced in ALS, while the linear counterparts, arising from shared precursor RNAs, did not change. Several of these circRNAs were also differentially abundant in motor neurons derived from human induced pluripotent stem cells (iPSCs) bearing ALS mutations, and across different disease stages in skeletal muscle from a mouse model of ALS (SOD1G93A). Interestingly, several of the circRNAs significantly elevated in muscle were significantly reduced in the spinal cord from ALS patients and ALS (SOD1G93A) mice. In sum, we have identified differentially abundant circRNAs in ALS-relevant tissues (muscle and spinal cord) that could inform about neuromuscular molecular programs in ALS and guide the development of therapies.

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