Immunofluorescence-Based Analysis of Caveolin-3 in the Diagnostic Management of Neuromuscular Diseases

Methods Mol Biol. 2020:2169:197-216. doi: 10.1007/978-1-0716-0732-9_18.


Immunohistochemistry- and/or immunofluorescence-based analysis of muscular proteins represents a standard procedure in the diagnostic management of patients suffering from neuromuscular diseases such as "Caveolinopathies" which are caused by mutations in the CAV3 gene encoding for caveolin-3. Human caveolin-3 is a 151 amino acid sized transmembrane protein localized within caveolae, predominantly expressed in cardiac and skeletal muscle cells and involved in a diversity of cellular functions crucial for muscle cell homeostasis. Loss of caveolin-3 protein abundance is indicative for the presence of pathogenic mutations within the corresponding gene and thus for the diagnosis of "Caveolinopathies." Moreover, description of abnormal immunoreactivity findings for the caveolin-3 protein is increasing in the context of other neuromuscular diseases suggesting that profound knowledge of abnormal caveolin-3-expression and/or distribution findings can be decisive also for the diagnosis of other neurological diseases as well as for a better understanding of the biology of the protein. Here, we summarize the current knowledge about the caveolin-3, report on a protocol for immunofluorescence-based analysis of the protein in the diagnostic workup of neuromuscular patients-also considering problems encountered-and confirm as well as summarize already published abnormal histological findings in muscular pathologies beyond "Caveolinopathies."

Keywords: CAV3-related LGMD; Caveolin-3; Caveolinopathy; Immunofluorescence in muscular diseases; Protein analyses in muscular diseases; Rippling muscle disease.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Caveolae / metabolism
  • Caveolin 3 / genetics*
  • Caveolin 3 / metabolism*
  • Fluorescent Antibody Technique / methods*
  • Humans
  • Muscle, Skeletal / metabolism*
  • Mutation
  • Neuromuscular Diseases / diagnosis*
  • Neuromuscular Diseases / metabolism*
  • Neuromuscular Diseases / pathology
  • Phenotype


  • CAV3 protein, human
  • Caveolin 3