Are there any naturally occurring Caveolin-3 mutations and/or deficiencies know to be associated with human disorders?
Mutations in Caveolin-3 are associated with numerous muscle pathologies – autosomal dominant LGMD1C, distal myopathy, hyperCKemia and rippling muscle disease (RMD). 5. How are the levels of Caveolin-3 secondarily affected in case of Dysferlin-deficiency? Dysferlin has been reported to be abnormally localized in LGMD1C. Membrane staining of Dysferlin is patchy and variable in intensity. In one LGMD1C patient, speckled cytoplasmic staining was observed. Though Caveolin-3 deficiency secondarily reduces Dysferlin, the opposite is not true all the time. It was proposed that this may be because Caveolin-3 is more tightly bound to the membrane and does not change when Dysferlin is absent.
