Sarcolemmal reorganization in facioscapulohumeral muscular dystrophy.

Abstract:

OBJECTIVE:We examined the sarcolemma of skeletal muscle from patients with facioscapulohumeral muscular dystrophy (FSHD1A) to learn if, as in other murine and human muscular dystrophies, its organization and relationship to nearby contractile structures are altered. METHODS:Unfixed biopsies of control and FSHD deltoid and biceps muscles, snap-frozen at resting length, were cryosectioned, indirectly immunolabeled with fluorescent antibodies to sarcolemmal and myofibrillar markers, and examined with confocal microscopy to localize the immunolabeled proteins. Glutaraldehyde-fixed samples were stained with heavy metals, embedded, thin-sectioned, and examined with electron microscopy to determine the relationship between the sarcolemma and the underlying myofibrils. RESULTS:Confocal microscopy showed that some of the structures at the sarcolemma in FSHD samples were misaligned with respect to the underlying contractile apparatus. Electron microscopy showed a significant increase in the distance between the sarcolemma and the nearest myofibrils, from less than 100 nm in controls to values as high as 550 nm in FSHD. INTERPRETATION:Our results show that the pathophysiology of FSHD includes novel changes in the organization of the sarcolemma and its association with nearby contractile structures and suggest that, as in other muscular dystrophies, the integrity of the sarcolemma may be compromised in FSHD.

journal_name

Ann Neurol

journal_title

Annals of neurology

authors

Reed P,Porter NC,Strong J,Pumplin DW,Corse AM,Luther PW,Flanigan KM,Bloch RJ

doi

10.1002/ana.20750

keywords:

subject

Has Abstract

pub_date

2006-02-01 00:00:00

pages

289-97

issue

2

eissn

0364-5134

issn

1531-8249

journal_volume

59

pub_type

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