Dysferlin quantification in monocytes for rapid screening for dysferlinopathies

Laura Sánchez-Chapul; Miguel Del Ángel-Muñoz; Luis Ruano-Calderón; Alexandra Luna-Angulo; Ramón Coral-Vázquez; Óscar Hernández-Hernández; Jonathan J. Magaña; Saúl R. León-Hernández; Rosa E. Escobar-Cedillo; Steven Vargas

doi:10.1002/mus.25156

Dysferlin quantification in monocytes for rapid screening for dysferlinopathies

Laura Sánchez-Chapul, Miguel Del Ángel-Muñoz, Luis Ruano-Calderón, Alexandra Luna-Angulo, Ramón Coral-Vázquez, Óscar Hernández-Hernández, Jonathan J. Magaña, Saúl R. León-Hernández, Rosa E. Escobar-Cedillo, Steven Vargas

Escuela Superior de Medicina (ESM)

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	1064-1071
Number of pages	8
Journal	Muscle and Nerve
Volume	54
Issue number	6
DOIs	https://doi.org/10.1002/mus.25156
State	Published - 1 Dec 2016

Keywords

dysferlin
dysferlinopathies
flow cytometry
monocytes
muscular dystrophies

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10.1002/mus.25156

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title = "Dysferlin quantification in monocytes for rapid screening for dysferlinopathies",

abstract = "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.",

keywords = "dysferlin, dysferlinopathies, flow cytometry, monocytes, muscular dystrophies",

author = "Laura S{\'a}nchez-Chapul and {\'A}ngel-Mu{\~n}oz, {Miguel Del} and Luis Ruano-Calder{\'o}n and Alexandra Luna-Angulo and Ram{\'o}n Coral-V{\'a}zquez and {\'O}scar Hern{\'a}ndez-Hern{\'a}ndez and Maga{\~n}a, {Jonathan J.} and Le{\'o}n-Hern{\'a}ndez, {Sa{\'u}l R.} and Escobar-Cedillo, {Rosa E.} and Steven Vargas",

note = "Publisher Copyright: {\textcopyright} 2016 Wiley Periodicals, Inc.",

year = "2016",

month = dec,

day = "1",

doi = "10.1002/mus.25156",

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T1 - Dysferlin quantification in monocytes for rapid screening for dysferlinopathies

AU - Sánchez-Chapul, Laura

AU - Ángel-Muñoz, Miguel Del

AU - Ruano-Calderón, Luis

AU - Luna-Angulo, Alexandra

AU - Coral-Vázquez, Ramón

AU - Hernández-Hernández, Óscar

AU - Magaña, Jonathan J.

AU - León-Hernández, Saúl R.

AU - Escobar-Cedillo, Rosa E.

AU - Vargas, Steven

PY - 2016/12/1

Y1 - 2016/12/1

N2 - 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.

AB - 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.

KW - dysferlin

KW - dysferlinopathies

KW - flow cytometry

KW - monocytes

KW - muscular dystrophies

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U2 - 10.1002/mus.25156

DO - 10.1002/mus.25156

M3 - Artículo

C2 - 27104310

SN - 0148-639X

VL - 54

SP - 1064

EP - 1071

JO - Muscle and Nerve

JF - Muscle and Nerve

IS - 6

ER -

Dysferlin quantification in monocytes for rapid screening for dysferlinopathies

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Keywords

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