Dysferlin quantification in monocytes for rapid screening for dysferlinopathies

Muscle Nerve. 2016 Dec;54(6):1064-1071. doi: 10.1002/mus.25156. Epub 2016 Oct 11.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Algorithms
  • DNA Mutational Analysis
  • Dysferlin
  • Female
  • Flow Cytometry
  • Humans
  • Lipopolysaccharide Receptors / metabolism
  • Male
  • Mass Screening
  • Membrane Proteins / genetics
  • Membrane Proteins / metabolism*
  • Middle Aged
  • Monocytes / metabolism*
  • Muscle Proteins / genetics
  • Muscle Proteins / metabolism*
  • Muscle, Skeletal / metabolism
  • Muscular Dystrophies, Limb-Girdle / diagnosis*
  • Muscular Dystrophies, Limb-Girdle / genetics
  • Muscular Dystrophies, Limb-Girdle / pathology*
  • Mutation / genetics
  • Statistics, Nonparametric
  • Young Adult

Substances

  • DYSF protein, human
  • Dysferlin
  • Lipopolysaccharide Receptors
  • Membrane Proteins
  • Muscle Proteins

Supplementary concepts

  • Dysferlinopathy