Dystrophin immunofluorescence pattern in manifesting and asymptomatic carriers of Duchenne's and Becker muscular dystrophies of different ages.
In order to investigate if the same apparent decrease in dystrophin negative fibers with aging observed in mouse mdx female heterozygotes also occurs in carriers of the DMD and BMD gene, we have studied the muscle of 29 DMD carriers (19 adults and 10 young daughters of obligate carriers, including 3 manifesting carriers) and 5 adult asymptomatic heterozygotes for Becker dystrophy (BMD). All young DMD possible carriers and 11 of 24 adult DMB/BMD heterozygotes had increased serum enzymes activities. A population of dystrophin negative fibers, more evident with the use of the C-terminal antibody, was seen in the three manifesting and in a 9-yr-old possible DMD carrier. In the remaining females, a positive immunohistochemical pattern of dystrophin, which did not differ from normal controls, was observed. Our results suggest that: (1) the increased population of dystrophin negative fibers reported in young mdx female heterozygotes was not seen in young DMD carriers, aged 6-17 yr; and (2) abnormalities in dystrophin immunostaining are not easily observed and are more frequent in manifesting carriers, when the muscle is grossly altered.
Vainzof
M
M
Departamento de Biologia, Universidade de São Paulo, Brazil.
Pavanello
R C
RC
Pavanello
I
I
Tsanaclis
A M
AM
Levy
J A
JA
Passos-Bueno
M R
MR
Rapaport
D
D
Zatz
M
M
D000293:Adolescent; D000328:Adult; D000368:Aged; D000375:Aging / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D003402:Creatine Kinase / Q000097:blood; D016189:Dystrophin / Q000097:blood* / Q000276:immunology; D005260:Female; D005455:Fluorescent Antibody Technique; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000097:blood / Q000235:genetics* / Q000276:immunology
D016189:Dystrophin; D003402:Creatine Kinase