Inclusion body myositis (Homo sapiens)
From WikiPathways
Description
Inclusion body myositis (IBM) is a rare muscle degeneration diseases. It is caused by presumably both genetic risk factors and environmental factors stimulated by increasing age. The mechanism of pathogenicity includes inflammation, ER stress/unfolded protein response, and disturbed autophagy, which leads to an accumulation of inclusions. The mechanism is similar to Alzheimer's disease and Parkinson's disease in neurons. This pathway is based on Figure 1 of Askanas V. et al. 2015.
Quality Tags
Ontology Terms
Saving...Bibliography
- Askanas V, Engel WK, Nogalska A; ''Sporadic inclusion-body myositis: A degenerative muscle disease associated with aging, impaired muscle protein homeostasis and abnormal mitophagy.''; Biochim Biophys Acta, 2015 PubMed Europe PMC Scholia
- Askanas V, Engel WK, Alvarez RB, McFerrin J, Broccolini A; ''Novel immunolocalization of alpha-synuclein in human muscle of inclusion-body myositis, regenerating and necrotic muscle fibers, and at neuromuscular junctions.''; J Neuropathol Exp Neurol, 2000 PubMed Europe PMC Scholia
- Robertson TA, Dutton NS, Martins RN, Roses AD, Kakulas BA, Papadimitriou JM; ''Age-related congophilic inclusions in the brains of apolipoprotein E-deficient mice.''; Neuroscience, 1998 PubMed Europe PMC Scholia
History
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External references
DataNodes
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| Name | Type | Database reference | Comment |
|---|---|---|---|
| AbPP-mRNA | Rna | 351 (Entrez Gene)  | APP, amyloid beta precursor protein |
| AbPP | Protein | 351 (Entrez Gene) | APP, amyloid beta precursor protein |
| Aging | Q332154 (Wikidata) | biological process | |
| Autoimmunity | Q192360 (Wikidata) | biological concept | |
| Autophagosome | Q14882441 (Wikidata) | biological concept | |
| Autophagy | Pathway | WP4923 (WikiPathways) | |
| BACE1 | GeneProduct | ENSG00000186318 (Ensembl) | |
| Calcium mediated T-cell apoptosis involved in inclusion body myositis | Pathway | WP5142 (WikiPathways) | |
| Congophilic inclusions | biological concept | ||
| Environmental factor | Q2142347 (Wikidata) | ||
| Inflammatory response pathway | Pathway | WP453 (WikiPathways) | |
| MAPT | GeneProduct | ENSG00000186868 (Ensembl) | |
| MSTN | GeneProduct | ENSG00000138379 (Ensembl) | Myostatin |
| Mitophagy | Pathway | WP3549 (WikiPathways) | |
| NCSTN | GeneProduct | ENSG00000162736 (Ensembl) | |
| NFKB1 | GeneProduct | ENSG00000109320 (Ensembl) | |
| NFKB2 | GeneProduct | ENSG00000077150 (Ensembl) | |
| Neuromuscular junction | Q776995 (Wikidata) | biological concept | |
| Non-congophilic diffuse inclusions | biological concept | ||
| Oxidative stress | Pathway | WP408 (WikiPathways) | |
| PSEN1 | GeneProduct | ENSG00000080815 (Ensembl) | |
| PSEN2 | GeneProduct | ENSG00000143801 (Ensembl) | |
| PSENEN | GeneProduct | ENSG00000205155 (Ensembl) | |
| Paired helical filaments | biological concept | ||
| Proteasome degradation | Pathway | WP183 (WikiPathways) | |
| Risk gene | Q104819495 (Wikidata) | Generalized, unknown risk genes | |
| SIRT1 | GeneProduct | ENSG00000096717 (Ensembl) | |
| Signal transduction | Q828130 (Wikidata) | biological concept | |
| Transcription | Pathway | WP1822 (WikiPathways) | |
| Unfolded Protein Response (UPR) | Pathway | WP1939 (WikiPathways) | ER stress |
| Y-sectretase complex | Complex | ||
| beta-APP | GeneProduct | PF03494 (Pfam) | group of toxic Ab42 oligomers |
| fibrillar beta-APP | GeneProduct | PF03494 (Pfam) | group of toxic Ab42 oligomers |
Annotated Interactions
No annotated interactions
