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Decreased muscle caveolin-3 level

MedGen UID:
1052581
•Concept ID:
CN376743
•
Finding
Synonym: Decreased muscle caveolin-3 expression
 
HPO: HP:6000230

Definition

The amount of calveolin-3 in muscle tissue is below the lower limit of normal. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDecreased muscle caveolin-3 level

Recent clinical studies

Etiology

Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation.
Böhm J, Leshinsky-Silver E, Vassilopoulos S, Le Gras S, Lerman-Sagie T, Ginzberg M, Jost B, Lev D, Laporte J
Acta Neuropathol 2012 Oct;124(4):575-81. Epub 2012 Jul 3 doi: 10.1007/s00401-012-1007-3. PMID: 22752422
Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.
Traverso M, Gazzerro E, Assereto S, Sotgia F, Biancheri R, Stringara S, Giberti L, Pedemonte M, Wang X, Scapolan S, Pasquini E, Donati MA, Zara F, Lisanti MP, Bruno C, Minetti C
Lab Invest 2008 Mar;88(3):275-83. Epub 2008 Feb 4 doi: 10.1038/labinvest.3700713. PMID: 18253147
RORalpha regulates the expression of genes involved in lipid homeostasis in skeletal muscle cells: caveolin-3 and CPT-1 are direct targets of ROR.
Lau P, Nixon SJ, Parton RG, Muscat GE
J Biol Chem 2004 Aug 27;279(35):36828-40. Epub 2004 Jun 15 doi: 10.1074/jbc.M404927200. PMID: 15199055

Diagnosis

RORalpha regulates the expression of genes involved in lipid homeostasis in skeletal muscle cells: caveolin-3 and CPT-1 are direct targets of ROR.
Lau P, Nixon SJ, Parton RG, Muscat GE
J Biol Chem 2004 Aug 27;279(35):36828-40. Epub 2004 Jun 15 doi: 10.1074/jbc.M404927200. PMID: 15199055

Therapy

Identification and functional analysis of a new putative caveolin-3 variant found in a patient with sudden unexplained death.
Lariccia V, Nasti AA, Alessandrini F, Pesaresi M, Gratteri S, Tagliabracci A, Amoroso S
J Biomed Sci 2014 Jun 10;21(1):58. doi: 10.1186/1423-0127-21-58. PMID: 24917393Free PMC Article
An omega-3 fatty acid-enriched diet prevents skeletal muscle lesions in a hamster model of dystrophy.
Fiaccavento R, Carotenuto F, Vecchini A, Binaglia L, Forte G, Capucci E, Maccari AM, Minieri M, Di Nardo P
Am J Pathol 2010 Nov;177(5):2176-84. Epub 2010 Sep 9 doi: 10.2353/ajpath.2010.100174. PMID: 20829440Free PMC Article

Clinical prediction guides

Syncytin-1 in differentiating human myoblasts: relationship to caveolin-3 and myogenin.
Bjerregard B, Ziomkiewicz I, Schulz A, Larsson LI
Cell Tissue Res 2014 Jul;357(1):355-62. Epub 2014 Jun 6 doi: 10.1007/s00441-014-1930-9. PMID: 24902667
Aquaporin-4 expression is severely reduced in human sarcoglycanopathies and dysferlinopathies.
Assereto S, Mastrototaro M, Stringara S, Gazzerro E, Broda P, Nicchia GP, Svelto M, Bruno C, Nigro V, Lisanti MP, Frigeri A, Minetti C
Cell Cycle 2008 Jul 15;7(14):2199-207. Epub 2008 May 12 doi: 10.4161/cc.7.14.6272. PMID: 18641458
RORalpha regulates the expression of genes involved in lipid homeostasis in skeletal muscle cells: caveolin-3 and CPT-1 are direct targets of ROR.
Lau P, Nixon SJ, Parton RG, Muscat GE
J Biol Chem 2004 Aug 27;279(35):36828-40. Epub 2004 Jun 15 doi: 10.1074/jbc.M404927200. PMID: 15199055
Involvement of micro-calpain (CAPN 1) in muscle cell differentiation.
Moyen C, Goudenege S, Poussard S, Sassi AH, Brustis JJ, Cottin P
Int J Biochem Cell Biol 2004 Apr;36(4):728-43. doi: 10.1016/S1357-2725(03)00265-6. PMID: 15010335

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