GeneSet Information

Tier IV GS407956 • 30 most down regulated genes from cardiac organoids from Duchenne Muscular Dystrophy (DMD) patient derived induced pluripotent stem cells (DMD-COs) from publication

DESCRIPTION:

Duchenne Muscular Dystrophy (DMD) is an X-linked neuromuscular disease. It is caused by mutations within the DMD gene, resulting in the absence of Dystrophin (DYS) protein leading to muscle weakness and wasting, owing to the loss of muscle membrane integrity and susceptibility to stress-induced damages. The major cause of death is dilated cardiomyopathy, and existing cellular and animal models do not fully recapitulate the human disease phenotypes. This study generated cardiac organoids from patient-derived induced pluripotent stem cells (DMD-COs) and isogenic-corrected controls (DMD-Iso-COs). The top 30 down regulated gene expression values were obtained from Table 3 of the paper directly, and log base 2 of the fold change are presented, with a P value <0.01.

LABEL:

30 most down regulated genes from DMD-COs compared to DMD-Iso-Cos from paper

SCORE TYPE:

Effect

DATE ADDED:

2024-01-08

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

Vittoria Marini, Fabiola Marino, Flaminia Aliberti, Nefele Giarratana, Enrico Pozzo, Robin Duelen, Álvaro Cortés Calabuig, Rita La Rovere, Tim Vervliet, Daniele Torella, Geert Bultynck, Maurilio Sampaolesi, Yoke Chin Chai

TITLE:

Long-term culture of patient-derived cardiac organoids recapitulated Duchenne muscular dystrophy cardiomyopathy and disease progression.

JOURNAL:

Frontiers in cell and developmental biology None 2022, Vol 10, pp. 878311

ABSTRACT:

Duchenne Muscular Dystrophy (DMD) is an X-linked neuromuscular disease which to date is incurable. The major cause of death is dilated cardiomyopathy however, its pathogenesis is unclear as existing cellular and animal models do not fully recapitulate the human disease phenotypes. In this study, we generated cardiac organoids from patient-derived induced pluripotent stem cells (DMD-COs) and isogenic-corrected controls (DMD-Iso-COs) and studied if DMD-related cardiomyopathy and disease progression occur in the organoids upon long-term culture (up to 93 days). Histological analysis showed that DMD-COs lack initial proliferative capacity, displayed a progressive loss of sarcoglycan localization and high stress in endoplasmic reticulum. Additionally, cardiomyocyte deterioration, fibrosis and aberrant adipogenesis were observed in DMD-COs over time. RNA sequencing analysis confirmed a distinct transcriptomic profile in DMD-COs which was associated with functional enrichment in hypertrophy/dilated cardiomyopathy, arrhythmia, adipogenesis and fibrosis pathways. Moreover, five miRNAs were identified to be crucial in this dysregulated gene network. In conclusion, we generated patient-derived cardiac organoid model that displayed DMD-related cardiomyopathy and disease progression phenotypes in long-term culture. We envision the feasibility to develop a more complex, realistic and reliable PUBMED: 36035984
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Annotation Information

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Disease (D004194)
Fibrosis (D005355)
Reticulum (D012159)
RNA (D012313)
Induced Pluripotent Stem Cells (D057026)
Death (D003643)
Paper (D010209)
Tables (D020501)
Gene Expression (D015870)
Hypertrophy (D006984)
Culture (D003469)
Time (D013995)
Cause of Death (D002423)
Phenotype (D010641)
Muscle Weakness (D018908)
Adipogenesis (D050156)
Cells (D002477)
Pluripotent Stem Cells (D039904)
Stem Cells (D013234)
Endoplasmic Reticulum (D004721)
Dystrophin (D016189)
Disease Progression (D018450)
Organoids (D009940)
Mutation (D009154)
irregular heartbeat (MP:0001636)
cachexia (MP:0005150)
dystrophic muscle (MP:0000752)
cardiomyopathy (MP:0005330)
dilated cardiomyopathy (MP:0002795)
weakness (MP:0000746)
muscle weakness (MP:0000747)
killing by symbiont of host cells (GO:0001907)
endoplasmic reticulum (GO:0005783)
modulation by symbiont of host defense response (GO:0052031)
modification by symbiont of host morphology or physiology (GO:0044003)
fat cell differentiation (GO:0045444)
cytolysis by symbiont of host cells (GO:0001897)
membrane (GO:0016020)
adipose tissue development (GO:0060612)
localization (GO:0051179)
hemolysis by symbiont of host erythrocytes (GO:0019836)
gene expression (GO:0010467)
positive regulation by symbiont of host programmed cell death (GO:0052042)
RNA (EDAM_topic:0099)
Analysis (EDAM_operation:2945)
Cell biology resources (EDAM_topic:2229)
Sequencing (EDAM_topic:3168)
Pathway or network (EDAM_data:2600)
protein (EDAM_format:1208)
Human disease (EDAM_topic:0803)
Transcriptomics (EDAM_topic:0203)
Date (EDAM_data:2156)
Pathways, networks and models (EDAM_topic:0602)
Keyword (EDAM_data:0968)
RNA-Seq (EDAM_topic:3170)
rna (EDAM_format:1213)
Disease resources (EDAM_topic:0634)
nucleobase (CHEBI:18282)
protein (CHEBI:36080)
base (CHEBI:22695)
protein polypeptide chain (CHEBI:16541)
ribonucleic acid (CHEBI:33697)
Muscle weakness (HP:0001324)
sequence orthology evidence used in manual assertion (ECO:0000266)
RNA-seq evidence (ECO:0000295)
muscular dystrophy (DOID:9884)
neuromuscular disease (DOID:440)
Duchenne muscular dystrophy (DOID:11723)
cardiomyopathy (DOID:0050700)
dilated cardiomyopathy (DOID:12930)
disease (DOID:4)
disease (EFO:0000408)
dilated cardiomyopathy (EFO:0000407)
hypertrophy (EFO:0002460)
time (EFO:0000721)
pluripotent (EFO:0002967)
cardiac arrhythmia (EFO:0004269)
fibrosis (EFO:0006890)
neuromuscular disease (EFO:1001902)
cardiomyopathy (EFO:0000318)
death stage (UBERON:0000071)
life-death temporal boundary (UBERON:0035944)
muscle structure (UBERON:0005090)
collateral sulcus (UBERON:0002716)
membrane organ (UBERON:0000094)
ruminant reticulum (UBERON:0007361)
muscle organ (UBERON:0001630)
membranous layer (UBERON:0000158)

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Supported by NIH R01 AA18776 jointly funded by NIAAA and NIDA, and JAX Center for Precision Genetics NIH U54 OD 020351