Inclusion body myositis (Homo sapiens)

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1MisfoldedproteinsabnormalLegendInteractionConversionTranslationStimulationInhibitionProteasome degradationbeta-APPInflammatory response pathwayRisk geneAbPP-mRNAPaired helical filamentsMSTNAutoimmunityUnfolded Protein Response (UPR)Oxidative stressNCSTNPSEN2Signal transductionCongophilic inclusionsPSENENNon-congophilic diffuse inclusionsNFKB1PSEN1Y-sectretase complexEnvironmental factorBACE1AgingMitophagyAutophagyMAPTAutophagosomeTranscriptionNeuromuscular junctionSIRT123NFKB2AbPPfibrillar beta-APPabnormalabnormalabnormal


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, 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

 

Bibliography

  1. 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
  2. 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
  3. 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

History

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CompareRevisionActionTimeUserComment
119391view10:37, 27 June 2021EweitzModified description
119201view08:15, 22 June 2021FehrhartModified description
119200view08:14, 22 June 2021Fehrhartwork in progress
119199view08:12, 22 June 2021FehrhartOntology Term : 'muscle cell' added !
119198view08:12, 22 June 2021FehrhartOntology Term : 'inclusion body myositis' added !
119197view08:12, 22 June 2021FehrhartOntology Term : 'disease pathway' added !
119196view08:10, 22 June 2021Fehrhartwork in progress
119195view08:09, 22 June 2021FehrhartNew pathway

External references

DataNodes

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NameTypeDatabase referenceComment
AbPP-mRNARna351 (Entrez Gene) APP, amyloid beta precursor protein
AbPPProtein351 (Entrez Gene) APP, amyloid beta precursor protein
AgingQ332154 (Wikidata) biological process
AutoimmunityQ192360 (Wikidata) biological concept
AutophagosomeQ14882441 (Wikidata) biological concept
AutophagyPathwayWP4923 (WikiPathways)
BACE1GeneProductENSG00000186318 (Ensembl)
Congophilic inclusionsbiological concept
Environmental factorQ2142347 (Wikidata)
Inflammatory response pathwayPathwayWP453 (WikiPathways)
MAPTGeneProductENSG00000186868 (Ensembl)
MSTNGeneProductENSG00000138379 (Ensembl) Myostatin
MitophagyPathwayWP3549 (WikiPathways)
NCSTNGeneProductENSG00000162736 (Ensembl)
NFKB1GeneProductENSG00000109320 (Ensembl)
NFKB2GeneProductENSG00000077150 (Ensembl)
Neuromuscular junctionQ776995 (Wikidata) biological concept
Non-congophilic diffuse inclusionsbiological concept
Oxidative stressPathwayWP408 (WikiPathways)
PSEN1GeneProductENSG00000080815 (Ensembl)
PSEN2GeneProductENSG00000143801 (Ensembl)
PSENENGeneProductENSG00000205155 (Ensembl)
Paired helical filamentsbiological concept
Proteasome degradationPathwayWP183 (WikiPathways)
Risk geneQ104819495 (Wikidata) Generalized, unknown risk genes
SIRT1GeneProductENSG00000096717 (Ensembl)
Signal transductionQ828130 (Wikidata) biological concept
TranscriptionPathwayWP1822 (WikiPathways)
Unfolded Protein Response (UPR)PathwayWP1939 (WikiPathways) ER stress
Y-sectretase complexComplex
beta-APPGeneProductPF03494 (Pfam) group of toxic Ab42 oligomers
fibrillar beta-APPGeneProductPF03494 (Pfam) group of toxic Ab42 oligomers

Annotated Interactions

No annotated interactions

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