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Gene expression signatures in motor neuron disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions

ABSTRACT: Amyotrophic lateral sclerosis and primary lateral sclerosis are two syndromic variants within the motor neurone disease spectrum. Whilst primary lateral sclerosis is associated with loss of upper motor neurons and a more benign disease course up to 17yrs, amyotrophic lateral sclerosis is caused by loss of both upper and lower motor neurons and has an average disease course of 2-3 years. The majority of cases are sporadic, thereby limiting the availability of cellular models for investigating pathogenic disease mechanisms. The aim of the present study was to evaluate fibroblasts as a cellular model for sporadic amyotrophic lateral sclerosis and primary lateral sclerosis, to establish whether disease-related dysregulated biological processes recapitulate those seen in the central nervous system and to elucidate pathways that distinguish between the two disease phenotypes.

ORGANISM(S): Homo sapiens

PROVIDER: GSE56808 | GEO | 2014/04/16

SECONDARY ACCESSION(S): PRJNA244655

REPOSITORIES: GEO

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Gene expression signatures in motor neuron disease fibroblasts reveal dysregulation of metabolism, hypoxia-response and RNA processing functions

Project description:Amyotrophic lateral sclerosis and primary lateral sclerosis are two syndromic variants within the motor neurone disease spectrum. Whilst primary lateral sclerosis is associated with loss of upper motor neurons and a more benign disease course up to 17yrs, amyotrophic lateral sclerosis is caused by loss of both upper and lower motor neurons and has an average disease course of 2-3 years. The majority of cases are sporadic, thereby limiting the availability of cellular models for investigating pathogenic disease mechanisms. The aim of the present study was to evaluate fibroblasts as a cellular model for sporadic amyotrophic lateral sclerosis and primary lateral sclerosis, to establish whether disease-related dysregulated biological processes recapitulate those seen in the central nervous system and to elucidate pathways that distinguish between the two disease phenotypes. We used microarray analysis to determine the differences in gene expression between fibroblasts derived from skin biopsies taken from sporadic amyotrophic lateral sclerosis and primary lateral sclerosis neurologically normal human controls

2014-04-16 | E-GEOD-56808 | 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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Proteomics of motor neuron in ASL model sorted by FACS

Project description:Amyotrophic lateral sclerosis (ALS), the most common form of motor neuron disease, is characterized by progressive muscle weakness and paralysis caused by degeneration of upper and lower motor neurons. A major breakthrough in understanding the genetics of ALS was the discovery of a GGGGCC hexanucleotide repeat expansion (HRE) within the non-coding region of chromosome 9 open reading frame 72 (C9orf72) as the most common mutation in both familial and sporadic forms of ALS [25, 80]. We report that C9orf72 loss of function and poly(GP) expression act together to induce motor neuron degeneration and paralysis. These synergistic properties of C9orf72 mutation affect autophagy, thus resulting in poly(GP) and p62 aggregation. In this context, poly(GP) accumulation occurs in motor neurons preferentially, along with swollen mitochondria, a typical signature of mitophagy defects. In motor neurons, accumulated abnormal mitochondria engage caspase cascade, ultimately giving rise to apoptotic cell death of motor neurons that results in paralysis

2021-05-11 | PXD023967 | Pride

Co-culture of iPSC-derived microglia and spinal motor neurons as a novel model for amyotrophic lateral sclerosis

Project description:Amyotrophic lateral sclerosis is a fatal neurodegenerative disorder primarily characterized by motor neuron degeneration with additional involvement of non-neuronal cells, in particular, microglia. In our previous work, we have established protocols for the differentiation of iPSC-derived spinal motor neurons and microglia. Here, we combine both cell lineages and establish a novel co-culture of iPSC-derived motor neurons and microglia, which is compatible with motor neuron identity and function. Co-cultured microglia express key microglial markers and transcriptomically resemble primary human microglia, have highly dynamic ramifications, are phagocytic, release various cytokines and respond to stimulation. Further, they express key amyotrophic lateral sclerosis-associated genes and release disease-relevant biomarkers. This novel and authentic human model system facilitates the study of physiological motor neuron-microglia crosstalk and permits the investigation of non-cell-autonomous phenotypes in amyotrophic lateral sclerosis.

2022-07-24 | GSE200037 | GEO

Gene expression profiling of resistant and vulnerable motor neuron subtypes in amyotrophic lateral sclerosis

Project description:A consistent clinical feature of amyotrophic lateral sclerosis (ALS) is the sparing of eye movements. Pathological studies have confirmed that there is relative sparing of the cranial motor nuclei of the oculomotor, trochlear and abducens nerves, although pathological changes resembling those seen in anterior horn cells are present to a lesser degree. The aim of the present study is to combine LCM and microarray analysis to study the differences between motor neurons that are selectively resistant (oculomotor neurons) and those that are vulnerable (lumbar spinal motor neurons) to the disease process in amyotrophic lateral sclerosis. We used microarray analysis to determine the differences in gene expression between oculomotor and lumbar spinal motor neurons, isolated by laser capture microdissection from the midbrain and spinal cord of neurologically normal human controls.

2013-03-01 | E-GEOD-40438 | biostudies-arrayexpress

Gene expression profiling of resistant and vulnerable motor neuron subtypes in amyotrophic lateral sclerosis

2013-03-01 | GSE40438 | GEO

Homo sapiens

Project description:Sporadic Amyotrophic Lateral Sclerosis

| PRJNA267252 | ENA

Homo sapiens

Project description:Sporadic Amyotrophic Lateral Sclerosis

| PRJNA267251 | ENA

Total RNAseq in the sporadic ALS and healthy control motor cortex

Project description:Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the degeneration of upper and lower motor neurons leading to progressive muscle weakness, wasting and paralysis that result in death within a few years from disease onset. In order to characterize RNA alterations in ALS, total RNAseq was performed in the ALS motor cortex, which is an early and vulnerable region in ALS.

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Functional identification of protocadherin alpha 9 (PCDHA9) as a candidate causative gene for amyotrophic lateral sclerosis

Project description:Genes associated with amyotrophic lateral sclerosis (ALS) are identified in ~15% of sporadic cases. Pcdhα9 mouse mutants carrying the corresponding point mutation or deletion mutation manifested a progressive decline in survival and motor function (paralysis) caused by loss of spinal motor neurons, significant muscle atrophy, and structural/functional abnormalities of the neuromuscular junction. Potential causes of defects in mutant mice predicted by single nucleus RNA-seq and ATAC-seq.

2023-06-30 | GSE234783 | GEO

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