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Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
Lars Klinge1, Gabriele Dekomien, Ahmed Aboumousa
1Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, NE1 3BZ Newcastle-upon-Tyne, UK.
Neuromuscular Disorders : NMD
|November 11, 2008
Summary
Sarcoglycan immunoanalysis in limb-girdle muscular dystrophy (LGMD) shows variable expression, making genotype prediction unreliable. Testing all four sarcoglycans is recommended for accurate diagnosis in LGMD patients.
Area of Science:
- Neurology
- Muscle Biology
- Genetics
Background:
- Autosomal recessive limb-girdle muscular dystrophies (LGMD) involve defects in the sarcoglycan complex.
- Reduced sarcolemmal expression of sarcoglycans occurs in LGMD2C-F and Duchenne/Becker muscular dystrophies (DMD/BMD).
- Previous suggestions indicated sarcoglycan expression patterns could predict genetic defects.
Purpose of the Study:
- To evaluate if sarcoglycan immunoanalysis patterns predict genetic defects in LGMD.
- To assess the diagnostic utility of analyzing all four sarcoglycans in muscle biopsies.
- To investigate the frequency of dystrophin and beta-dystroglycan reduction in sarcoglycan-deficient LGMD.
Main Methods:
- Muscle immunoanalysis of sarcoglycan complex in 24 genetically characterized LGMD patients.
- Analysis of 22 muscle biopsies without prior knowledge of genetic diagnosis.
- Utilized antibodies against alpha-, beta-, gamma-, and delta-sarcoglycan.
Main Results:
- Residual sarcoglycan expression was highly variable and did not accurately predict genotype.
- Thirteen patients had alpha-sarcoglycan deficiency (LGMD2D), 7 beta (LGMD2E), 3 gamma (LGMD2C), and 1 delta (LGMD2F).
- Concomitant reduction of dystrophin and beta-dystroglycan was observed more frequently than previously reported.
Conclusions:
- Sarcoglycan immunoanalysis alone is insufficient for accurate genotype prediction in LGMD.
- Recommend using antibodies for all four sarcoglycans in muscle biopsy analysis.
- Sarcoglycan-deficient LGMD requires differentiation from DMD/BMD due to observed dystrophin and beta-dystroglycan reductions.
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