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Published on: December 23, 2015
Systemic membrane defect in the proximal muscular dystrophies
The New England Journal of Medicine
|October 19, 1978
Summary
Lymphocyte capping is diminished in various muscular dystrophies, suggesting altered membrane fluidity. Carrier screening for Duchenne muscular dystrophy could aid in prevention strategies.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Lymphocyte capping is a cellular process sensitive to membrane properties.
- Previous studies suggest altered membrane fluidity in some muscular dystrophies.
Purpose of the Study:
- To investigate lymphocyte capping in patients with various proximal muscular dystrophies.
- To assess the utility of lymphocyte capping as a marker for Duchenne muscular dystrophy carriers and for estimating mutation rates.
Main Methods:
- Lymphocyte capping assays were performed on 61 patients with Duchenne, Becker, limb-girdle, facioscapulohumeral, and congenital muscular dystrophies.
- Comparison was made with 86 normal controls.
- Family studies were conducted on 25 families, including 16 suspected sporadic cases.
Main Results:
- All patient groups exhibited significantly reduced lymphocyte capping compared to controls.
- Heterozygous carriers of Duchenne muscular dystrophy showed diminished capping, similar to affected males, even with normal serum enzyme levels.
- Analysis of 30 affected males suggested that new mutations account for a small proportion of Duchenne muscular dystrophy cases.
Conclusions:
- Diminished lymphocyte capping is a common feature across several proximal muscular dystrophies, supporting the role of altered membrane fluidity in pathogenesis.
- Lymphocyte capping is a potential indicator for Duchenne muscular dystrophy carriers.
- Population screening for carrier females and prenatal diagnosis could help prevent Duchenne muscular dystrophy cases.
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