Inclusion body myositis (Homo sapiens)
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Description
Inclusion body myositis 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, disturbed autophagy which leads to an accumulation of inclusions. The mechanism is similar to Alzheimer's disease and Parkinson's disease in neurons.
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) | |
| 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 |
| congophilic inclusions | biological concept | ||
| fibrillar beta-APP | GeneProduct | PF03494 (Pfam) | group of toxic Ab42 oligomers |
Annotated Interactions
No annotated interactions
