Dysferlin quantification in monocytes for rapid screening for dysferlinopathies
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Laura Sánchez-Chapul1, Miguel Del Ángel-Muñoz1, Luis Ruano-Calderón2
1División de Neurociencias, Instituto Nacional de Rehabilitación (INR), Calz. Mexico-Xochimilco 289, Col. Arenal de Guadalupe, Del. Tlalpan, 14389, Mexico City, Mexico.
Introduction:
In this study, we determined normal levels of dysferlin expression in CD14+ monocytes by flow cytometry (FC) as a screening tool for dysferlinopathies.
Methods:
Monocytes from 183 healthy individuals and 29 patients were immunolabeled, run on an FACScalibur flow cytometer, and analyzed by FlowJo software.
Results:
The relative quantity of dysferlin was expressed as mean fluorescence intensity (MFI). Performance of this diagnostic test was assessed by calculating likelihood ratios at different MFI cut-off points, which allowed definition of 4 disease classification groups in a simplified algorithm.
Conclusion:
The MFI value may differentiate patients with dysferlinopathy from healthy individuals; it may be a useful marker for screening purposes. Muscle Nerve 54: 1064-1071, 2016.
