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Expression profiling in VCP-associated myopathy

ABSTRACT: Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD) is caused by mutations in the Valosin Containing Protein (VCP) gene on chromosome 9p12-13. To elucidate affected signaling transduction axes in IBMPFD, we determined expression profiles using microarray technology in quadriceps muscle from patients and unaffected relatives.

ORGANISM(S): Homo sapiens

PROVIDER: GSE30806 | GEO | 2012/07/19

SECONDARY ACCESSION(S): PRJNA144207

REPOSITORIES: GEO

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Expression profiling in VCP-associated myopathy

Project description:Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia (IBMPFD) is caused by mutations in the Valosin Containing Protein (VCP) gene on chromosome 9p12-13. To elucidate affected signaling transduction axes in IBMPFD, we determined expression profiles using microarray technology in quadriceps muscle from patients and unaffected relatives. Muscle from 10 individuals (7 affected, 3 unaffected first degree relatives) was obtained after informed consent for the muscle biopsy was obtained.

2012-07-18 | E-GEOD-30806 | biostudies-arrayexpress

Skeletal muscle cell protein dysregulation highlights the pathogenesis mechanism of myopathy-associated p97/VCP R155H mutations

Project description:p97/VCP, a hexametric member of the AAA-ATPase superfamily, has been associated with a wide range of cellular protein pathways, such as proteasomal degradation, the unfolding of polyubiquitinated proteins, and autophagosome maturation. Autosomal dominant p97/VCP mutations cause a rare hereditary multisystem disorder called IBMPFD/ALS (Inclusion Body Myopathy with Paget's Disease and Frontotemporal Dementia/Amyotrophic Lateral Sclerosis), characterized by progressive weakness and subsequent atrophy of skeletal muscles, and impacting bones and brains, such as Parkinson's disease, Lewy body disease, Huntington's disease, and amyotrophic lateral ALS. Among all disease-causing mutations, Arginine 155 to Histidine (R155H/+) was reported to be the most common one, affecting over 50% of IBMPFD patients, resulting in disabling muscle weakness, which might eventually be life-threatening due to cardiac and respiratory muscle involvement. Induced pluripotent stem cells (iPSCs) offer an unlimited resource of cells to study pathology's underlying molecular mechanism, perform drug screening, and investigate regeneration. Using R155H/+ patients' fibroblasts, we generated IPS cells and corrected the mutation (Histidine to Arginine, H155R) to generate isogenic control cells before differentiating them into myotubes. The further proteomic analysis allowed us to identify differentially expressed proteins associated with the R155H mutation. Our results showed that R155H/+ cells were associated with dysregulated expression of several proteins involved in skeletal muscle function, cytoskeleton organization, cell signaling, intracellular organelles organization and function, cell junction, and cell adhesion. Our findings provide molecular evidence of dysfunctional protein expression in R155H/+ myotubes and offer new therapeutic targets for treating IBMPFD/ALS.

2023-07-23 | PXD044004 | Pride

Progressive motor neuron pathology and the role of astrocytes in a human stem cell model of VCP-related ALS

Project description:Motor neurons (MNs) and astrocytes (ACs) are implicated in the pathogenesis of amyotrophic lateral sclerosis (ALS), but their interaction and the sequence of molecular events leading to MN death remain unresolved. Herewe optimized directed differentiation of induced pluripotent stem cells (iPSCs) into highly enriched (>85%) functional populations of spinal cord MNs and ACs. We identifysignificantlyincreased cytoplasmic TDP-43 and ER stress as primary pathogenic events in patient-specific valosin-containing protein (VCP)-mutant MNs, with secondary mitochondrial dysfunction and oxidative stress. Cumulatively these cellular stresses result in synaptic pathology and cell death in VCP-mutant MNs. We additionallyidentify a cell-autonomous VCP-mutant AC survival phenotype, which is not attributable to the same molecular pathology occurring in VCP-mutant MNs. Finally, through iterative co-culture experiments, we uncover non-cell-autonomous effects of VCP-mutant ACs on both control and mutant MNs. This work elucidates molecular events and cellular interplay thatcould guide future therapeutic strategies in ALS.

2017-05-31 | GSE98288 | GEO

vcp

Project description:Danio rerio vcp, valosin containing protein [Source:NCBI gene;Acc:327197], is expressed in 1 baseline experiment(s);

| ENSDARG00000020008 | ExpressionAtlas

Vcp

Project description:Rattus norvegicus Vcp, valosin-containing protein [Source:RGD Symbol;Acc:621595], is differentially expressed in 21 experiment(s);

| ENSRNOG00000034242 | ExpressionAtlas

vcp

Project description:Danio rerio vcp, valosin containing protein [Source:NCBI gene;Acc:327197], is differentially expressed in 2 experiment(s);

| ENSDARG00000020008 | ExpressionAtlas

Vcp

Project description:Rattus norvegicus Vcp, valosin-containing protein [Source:RGD Symbol;Acc:621595], is expressed in 11 baseline experiment(s);

| ENSRNOG00000034242 | ExpressionAtlas

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Project description:Monodelphis domestica VCP, valosin containing protein [Source:NCBI gene;Acc:100020775], is expressed in 1 baseline experiment(s);

| ENSMODG00000007809 | ExpressionAtlas

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Project description:Homo sapiens VCP, valosin containing protein [Source:HGNC Symbol;Acc:HGNC:12666], is differentially expressed in 173 experiment(s);

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Project description:Mus musculus Vcp, valosin containing protein [Source:MGI Symbol;Acc:MGI:99919], is differentially expressed in 75 experiment(s);

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