Caveolinopathies: Mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases
| Autor: | Scott Eric Woodman, Ferruccio Galbiati, Michael P. Lisanti, Federica Sotgia, Carlo Minetti |
|---|---|
| Rok vydání: | 2004 |
| Předmět: |
Male
Genotype Caveolin 3 Molecular Sequence Data Biology medicine.disease_cause Caveolins Sarcolemma Muscular Diseases medicine Humans Myocyte Amino Acid Sequence Child Myopathy Creatine Kinase Aged Genes Dominant Genetics Mutation Skeletal muscle Neuromuscular Diseases medicine.disease Cell biology Phenotype medicine.anatomical_structure Muscular Dystrophies Limb-Girdle Child Preschool Female Neurology (clinical) medicine.symptom ITGA7 Muscle Contraction Muscle contraction Limb-girdle muscular dystrophy |
| Zdroj: | Neurology. 62:538-543 |
| ISSN: | 1526-632X 0028-3878 |
| DOI: | 10.1212/wnl.62.4.538 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|