Inclusion body myositis (WP5120)

Homo sapiens

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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.

Authors

Friederike Ehrhart , Eric Weitz , and Tooba Abbassi-Daloii

Activity

last edited

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Cited In

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Organisms

Homo sapiens

Communities

Rare Diseases

Annotations

Cell Type Ontology

muscle cell

Pathway Ontology

disease pathway

Disease Ontology

inclusion body myositis

Participants
Query Drugst.One

Label Type Compact URI Comment
BACE1 GeneProduct ensembl:ENSG00000186318
MSTN GeneProduct ensembl:ENSG00000138379 Myostatin
SIRT1 GeneProduct ensembl:ENSG00000096717
PSEN1 GeneProduct ensembl:ENSG00000080815
NCSTN GeneProduct ensembl:ENSG00000162736
MAPT GeneProduct ensembl:ENSG00000186868
PSENEN GeneProduct ensembl:ENSG00000205155
PSEN2 GeneProduct ensembl:ENSG00000143801
beta-APP GeneProduct pfam:PF03494 group of toxic Ab42 oligomers
NFKB1 GeneProduct ensembl:ENSG00000109320
NFKB2 GeneProduct ensembl:ENSG00000077150
fibrillar beta-APP GeneProduct pfam:PF03494 group of toxic Ab42 oligomers
AbPP Protein ncbigene:351 APP, amyloid beta precursor protein

References

  1. Age-related congophilic inclusions in the brains of apolipoprotein E-deficient mice. Robertson TA, Dutton NS, Martins RN, Roses AD, Kakulas BA, Papadimitriou JM. Neuroscience. 1998 Jan;82(1):171–80. PubMed Europe PMC Scholia
  2. Novel immunolocalization of alpha-synuclein in human muscle of inclusion-body myositis, regenerating and necrotic muscle fibers, and at neuromuscular junctions. Askanas V, Engel WK, Alvarez RB, McFerrin J, Broccolini A. J Neuropathol Exp Neurol. 2000 Jul;59(7):592–8. PubMed Europe PMC Scholia
  3. Sporadic inclusion-body myositis: A degenerative muscle disease associated with aging, impaired muscle protein homeostasis and abnormal mitophagy. Askanas V, Engel WK, Nogalska A. Biochim Biophys Acta. 2015 Apr;1852(4):633–43. PubMed Europe PMC Scholia