DSP
MIM.125647 6p24
Image Gallery
[ (||image_reduire{0,60}|inserer_attribut{alt,Desmoplakin in desmosomes}) ]
Desmoplakin, a desmosomal component, is a key protein involved in cell-cell adhesion.
Desmosomal proteins can be divided into 2 groups based on whether they fractionate with the urea-insoluble ’core’ or the urea-soluble ’plaque’ components. The main proteins of the plaque comprise the desmoplakins and plakoglobin (MIM.173325).
desmoplakin-1 and desmoplakin-2 are related proteins of molecular mass 250,000 and 215,000, respectively. They are splice variants of the same gene.
Pathology
Down-regulation of desmosomal proteins is associated with the invasive and metastatic ability of tumor cells.
- Down-regulation of desmoplakin expression may represent a useful marker for evaluating the risk of distant metastasis formation in oropharyngeal squamous cell carcinomas. (#19386346#)
- Interestingly, desmoplakin-2 (DSP2) is detected only in tumors associated with a poor clinical outcome, suggesting a potential specific function for this isoform in oral carcinogenesis. (#19386346#)
- Characterizing DSP expression may improve evaluation risk of distant metastasis formation in oral cancer patients. (#19386346#)
germline mutations in
- striate subtype of palmoplantar keratoderma (type I striate keratosis palmoplantaris) (PPKS type 1) (MIM.148700)
- dilated left ventricular cardiomyopathy with palmoplantar epidermis and woolly hair (MIM.605676)
- arrhythmogenic right ventricular dysplasia (ARVD8)(MIM.607450)
- skin fragility-woolly hair syndrome (MIM.607655)
References
Altered desmoplakin expression at transcriptional and protein levels provides prognostic information in human oropharyeal cancer. Papagerakis S, Shabana AH, Pollock BH, Papagerakis P, Depondt J, Berdal A. Hum Pathol. 2009 Apr 20. PMID: #19386346#
Reviews
Leung CL, Green KJ, Liem RK. Plakins : a family of versatile cytolinker proteins. Trends Cell Biol. 2002 Jan ;12(1):37-45. PMID : #11854008#
Lai Cheong JE, Wessagowit V, McGrath JA. Molecular abnormalities of the desmosomal protein desmoplakin in human disease. Clin Exp Dermatol. 2005 May;30(3):261-6. PMID: #15807686#