Table 2.
Control purpose | Protein | Normal expression | Secondary changes | Notes |
---|---|---|---|---|
Preservation of plasma membrane | Spectrin | Sarcolemma | Reduction in immature/regenerating fibres. Absent or patchy in necrotic fibres. Absent of patchy in biopsies with artefacts. |
May be reduced in fibres with Neo-MHC, utrophin, laminin α5, MHC class I. Absence of other sarcolemmal proteins. |
Regenerating fibres | Neo-MHC | Fibres unlabelled | Labelling of regenerating fibres. Labelling of atrophic fibres. |
Coexpressed with laminin α5, MHC class I, utrophin |
Regenerating fibres | Utrophin | Vessels, nerves and neuromuscular junction | Labelling of regenerating fibres. Labelling of mature fibres in DMD/BMD. |
Coexpressed with Neo-MHC, laminin α5, MHC class I |
Regenerating fibres, denervation | nNOS | Sarcolemma | Reduction in regenerating and denervated fibres. Absent in DMD, some BMD and sarcoglycanopathies. |
Reduced in fibres expressing utrophin, Neo-MHC, laminin α5, MHC class I |
Regenerating fibres | Laminin α5 | Blood vessels | Labelling of regenerating fibres. Labelling of mature fibres in MDC1A. | Coexpressed with utrophin, Neo-MHC, laminin α5, MHC class I |
Inflammation, regenerating fibres | MHC class I | Blood vessels | Labelling of regenerating fibres. Sarcolemmal labelling in diseases with inflammatory component. |
Coexpressed with utrophin, Neo-MHC, laminin α5 |
Basement membrane, integrity | Laminin β1 | Sarcolemma and blood vessels | Sarcolemmal labelling reduced or patchy in many dominant and recessive conditions | |
Basement membrane, integrity | Laminin γ1, Perlecan | Sarcolemma and blood vessels | Patchy in biopsies with artefacts |
DMD/BMD Duchenne/Becker muscular dystrophy; MDC1A = congenital muscular dystrophy type 1A; MHC = major histocompatibility complex; Neo-MHC = neonatal myosin heavy chain; nNOS = neuronal nitric oxide synthase.