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Dysferlin quantification in monocytes for rapid screening for dysferlinopathies.
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.
Muscle & Nerve
|April 23, 2016
Summary
Flow cytometry analysis of dysferlin in monocytes can screen for dysferlinopathies. Measuring mean fluorescence intensity (MFI) in CD14+ monocytes helps differentiate patients from healthy individuals.
Area of Science:
- Biochemistry
- Immunology
- Genetics
Background:
- Dysferlinopathies are a group of muscular dystrophies.
- Accurate diagnosis is crucial for patient management.
Purpose of the Study:
- To establish normal dysferlin expression levels in CD14+ monocytes.
- To evaluate flow cytometry as a screening tool for dysferlinopathies.
Main Methods:
- Collected monocytes from 183 healthy individuals and 29 patients.
- Immunolabeled monocytes and analyzed using flow cytometry (FACScalibur).
- Quantified dysferlin using mean fluorescence intensity (MFI) and FlowJo software.
Main Results:
- Dysferlin MFI levels were determined in healthy individuals.
- Likelihood ratios were calculated at various MFI cut-off points.
- A simplified algorithm classified individuals into 4 disease groups.
Conclusions:
- MFI values can distinguish dysferlinopathy patients from healthy individuals.
- Flow cytometry of monocytes is a potential screening marker for dysferlinopathies.
