Dysferlin quantification in monocytes for rapid screening for dysferlinopathies.
In this study, we determined normal levels of dysferlin expression in CD14+monocytes by flow cytometry (FC) as a screening tool for dysferlinopathies.



Monocytes from 183 healthy individuals and 29 patients were immunolabeled, run on an FACScalibur flow cytometer, and analyzed by FlowJo software.



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.



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.
División de Neurociencias, Instituto Nacional de Rehabilitación (INR), Calz. Mexico-Xochimilco 289, Col. Arenal de Guadalupe, Del. Tlalpan, 14389, Mexico City, Mexico.
Laura
L
Sánchez-Chapul
División de Neurociencias, Instituto Nacional de Rehabilitación (INR), Calz. Mexico-Xochimilco 289, Col. Arenal de Guadalupe, Del. Tlalpan, 14389, Mexico City, Mexico.
Miguel Del
MD
Ángel-Muñoz
Subdirección de Enseñanza y Capacitación, Investigación y Calidad en Salud, Secretaría de Salud del Estado de Durango (SSED), Durango City, Mexico.
Luis
L
Ruano-Calderón
División de Neurociencias, Instituto Nacional de Rehabilitación (INR), Calz. Mexico-Xochimilco 289, Col. Arenal de Guadalupe, Del. Tlalpan, 14389, Mexico City, Mexico.
Alexandra
A
Luna-Angulo
Sección de Posgrado, Escuela Superior de Medicina, Instituto Politécnico Nacional (ESM-IPN), Mexico City, Mexico.
Ramón
R
Coral-Vázquez
Laboratorio de Medicina Genómica, Servicio de Genética, (INR), Mexico City, Mexico.
Óscar
Ó
Hernández-Hernández
Laboratorio de Medicina Genómica, Servicio de Genética, (INR), Mexico City, Mexico.
Jonathan J
JJ
Magaña
Unidad de Apoyo a la Investigación, INR, Mexico City, Mexico.
Saúl R
SR
León-Hernández
Servicio de Electromiografía y Distrofia Muscular, INR, Mexico City, Mexico.
Rosa E
RE
Escobar-Cedillo
Laboratorio de Patología Experimental, Instituto Nacional de Neurología y Neurocirugía (INNN) "Manuel Velasco Suárez", Mexico City, Mexico.
Steven
S
Vargas
D000328:Adult; D000465:Algorithms; D004252:DNA Mutational Analysis; D000073939:Dysferlin; D005260:Female; D005434:Flow Cytometry; D006801:Humans; D018950:Lipopolysaccharide Receptors / Q000378:metabolism; D008297:Male; D008403:Mass Screening; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism*; D008875:Middle Aged; D009000:Monocytes / Q000378:metabolism*; D009124:Muscle Proteins / Q000235:genetics / Q000378:metabolism*; D018482:Muscle, Skeletal / Q000378:metabolism; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D009154:Mutation / Q000235:genetics; D018709:Statistics, Nonparametric; D055815:Young Adult
C114839:DYSF protein, human; D000073939:Dysferlin; D018950:Lipopolysaccharide Receptors; D008565:Membrane Proteins; D009124:Muscle Proteins
dysferlin; dysferlinopathies; flow cytometry; monocytes; muscular dystrophies