title: The concomitant use of dystrophin and utrophin/dystrophin related protein antibodies to reduce misdiagnosis of Duchenne/Becker muscular dystrophy.
abstract: Antibodies to dystrophin have increased accuracy in the diagnosis of Duchenne/Becker muscular dystrophy (D/BMD). Both typical and 'atypical' presentations of this disease can be confirmed by demonstrating qualitative and quantitative defects in the expression of dystrophin protein. However, owing to the propensity for dystrophin degradation in vitro, caution needs to be applied while performing and interpreting antibody-based dystrophin analysis. Here we identify two cases where in vitro protein degradation caused diagnostic confusion. We demonstrate the use of utrophin/dystrophin related protein (DRP) as sensitive control for sample degradation, since it is more labile than dystrophin. We suggest that the concomitant or sequential usage of antibodies specific for dystrophin along with utrophin/DRP can help reduce the misdiagnosis of D/BMD.
authors.affiliation: Department of Neurobiology, Harvard Medical School, Boston, Massachusetts 02115, USA.
authors.forename: T S
authors.initials: TS
authors.lastname: Khurana
authors.forename: L A
authors.initials: LA
authors.lastname: Specht
authors.forename: A H
authors.initials: AH
authors.lastname: Beggs
authors.forename: F M
authors.initials: FM
authors.lastname: Tomé
authors.forename: F
authors.initials: F
authors.lastname: Letureq
authors.forename: M
authors.initials: M
authors.lastname: Chevallay
authors.forename: P
authors.initials: P
authors.lastname: Chafey
authors.forename: L M
authors.initials: LM
authors.lastname: Kunkel
mesh_terms: D000906:Antibodies; D002648:Child; D003598:Cytoskeletal Proteins / Q000276:immunology / Q000302:isolation & purification* / Q000378:metabolism; D016189:Dystrophin / Q000276:immunology / Q000302:isolation & purification* / Q000378:metabolism; D005260:Female; D005333:Fetus; D006801:Humans; D015151:Immunoblotting; D007150:Immunohistochemistry; D008297:Male; D008565:Membrane Proteins / Q000276:immunology / Q000302:isolation & purification* / Q000378:metabolism; D009136:Muscular Dystrophies / Q000175:diagnosis*; D015203:Reproducibility of Results; D049411:Utrophin
chemical_list: D000906:Antibodies; D003598:Cytoskeletal Proteins; D016189:Dystrophin; D008565:Membrane Proteins; D049411:Utrophin