Caveolinlopathies: Mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases

S. E. Woodman, F. Sotgia, F. Galbiati, C. Minetti, Michael P. Lisanti

Research output: Contribution to journalArticle

Abstract

The caveolin-3 protein is expressed exclusively in muscle cells. Caveolin-3 expression is sufficient to form caveolae-sarcolemmal invaginations that are 50 to 100 nm in diameter. Monomers of caveolin-3 oligomerize to form high molecular mass scaffolding on the cytoplasmic surface of the sarcolemmal membrane. A mutation in one caveolin-3 allele produces an aberrant protein product capable of sequestering the normal caveolin-3 protein in the Golgi apparatus of skeletal muscle cells. Improper caveolin-3 oligomerization and membrane localization result in skeletal muscle T-tubule system derangement, sarcolemmal membrane alterations, and large subsarcolemmal vesicle formation. To date, there have been eight autosomal dominant caveolin-3 mutations identified in the human population. Caveolin-3 mutations can result in four distinct, sometimes overlapping, muscle disease phenotypes: limb girdle muscular dystrophy, rippling muscle disease, distal myopathy, and hyperCKemia. Thus, the caveolin-3 mutant genotype-to-phenotype relation represents a clear example of how genetic background can influence phenotypic outcome. This review examines in detail the reported cases of patients with caveolin-3 mutations and their corresponding muscle disease phenotypes.

Original languageEnglish
Pages (from-to)538-543
Number of pages6
JournalNeurology
Volume62
Issue number4
Publication statusPublished - Feb 24 2004

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Caveolin 3
Muscles
Mutation
Caveolins
Phenotype
Muscle Cells
Membranes
Skeletal Muscle
Distal Myopathies
Limb-Girdle Muscular Dystrophies
Caveolae
Golgi Apparatus

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Woodman, S. E., Sotgia, F., Galbiati, F., Minetti, C., & Lisanti, M. P. (2004). Caveolinlopathies: Mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. Neurology, 62(4), 538-543.

Caveolinlopathies : Mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. / Woodman, S. E.; Sotgia, F.; Galbiati, F.; Minetti, C.; Lisanti, Michael P.

In: Neurology, Vol. 62, No. 4, 24.02.2004, p. 538-543.

Research output: Contribution to journalArticle

Woodman, SE, Sotgia, F, Galbiati, F, Minetti, C & Lisanti, MP 2004, 'Caveolinlopathies: Mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases', Neurology, vol. 62, no. 4, pp. 538-543.
Woodman, S. E. ; Sotgia, F. ; Galbiati, F. ; Minetti, C. ; Lisanti, Michael P. / Caveolinlopathies : Mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. In: Neurology. 2004 ; Vol. 62, No. 4. pp. 538-543.
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