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Caveolin-3 gene mutation in Japanese with rippling muscle disease
I Yabe1, A Kawashima, S Kikuchi
1Department of Neurology, Hokkaido University Graduate School of Medicine, Kita-ku, Sapporo, and Hokkaido Neurology Hospital, Nijyuyonken, Japan. yabe@med.hokudai.ac.jp
Objectives:
Rippling muscle disease (RMD) is a rare myopathy characterized by percussion-induced rapid muscle contractions, muscle mounding, and rippling. Recently a caveolin-3 gene (CAV3) mutation was identified in patients with autosomal dominant RMD. The objective of this study was to determine whether a similar mutation was present in two Japanese families with this condition.
Patients And Methods:
Clinical examination, mutational analysis, and muscle immunohistochemistry were carried out in six patients from two Japanese RMD pedigrees.
Results:
Apart from the atrophy of the intrinsic muscles in their hands and a slight muscle weakness in their fingers, the clinical features of our patients were compatible with RMD. Our investigation revealed a CAV3 missense mutation, i.e. Arg26Gln in both families. Immunohistochemistry performed on a muscle biopsy specimen showed reduced caveolin-3 surface expression.
Conclusions:
Japanese RMD also appears to result from a CAV3 mutation.
Insights
Japanese patients with Rippling Muscle Disease (RMD) were found to have a mutation in the caveolin-3 gene (CAV3). This genetic finding suggests a common cause for RMD across different populations.
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Rippling Muscle Disease (RMD) is a rare neuromuscular disorder.
- Autosomal dominant RMD has been linked to mutations in the caveolin-3 gene (CAV3).
Observation:
- This study investigated two Japanese families with RMD.
- Clinical examinations revealed symptoms consistent with RMD, including hand muscle atrophy and finger weakness.
Findings:
- A CAV3 missense mutation (Arg26Gln) was identified in both Japanese families.
- Muscle biopsy analysis showed reduced caveolin-3 surface expression in affected individuals.
Implications:
- The findings indicate that CAV3 mutations are a cause of RMD in Japanese populations.
- This reinforces the role of CAV3 in the pathogenesis of Rippling Muscle Disease.
- Further research into CAV3-related myopathies is warranted.
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