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In Situ Immunofluorescent Staining of Autophagy in Muscle Stem Cells
08:35

In Situ Immunofluorescent Staining of Autophagy in Muscle Stem Cells

Published on: June 12, 2017

Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy

B A Minassian1, R Aiyar, S Alic

  • 1Division of Neurology, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Ontario, Canada. bminass@sickkids.ca

Neurology
|August 28, 2002
PubMed
Abstract

Insights

Researchers identified new families with X-linked myopathy with excessive autophagy (XMEA), a rare childhood muscle disease. They refined the disease gene location, aiding the search for causative mutations and understanding XMEA.

Area of Science:

  • Genetics
  • Neuromuscular Disorders
  • Molecular Biology

Background:

  • X-linked myopathy with excessive autophagy (XMEA) is a progressive childhood skeletal muscle disease.
  • Distinctive pathology includes autophagic vacuoles and basement membrane abnormalities.
  • Previous studies linked XMEA to the Xq28 region.

Purpose of the Study:

  • Identify new families with XMEA.
  • Refine the genetic locus for XMEA.
  • Map genes within the refined region and screen candidate genes for mutations.

Main Methods:

  • Ascertainment of seven new families with XMEA.
  • Fine-mapping the disease locus using 11 microsatellite markers.
  • Assembling sequence data and constructing a gene map of the refined region.
  • Screening 12 candidate genes for mutations.

Main Results:

  • The XMEA locus was refined to a 4.37-Mb region.
  • A gene map of 82 genes and 28 EST clusters was created for the region.
  • Mutations were excluded in 10% of the screened candidate genes.

Conclusions:

  • This study doubles the number of reported XMEA families and confirms its unique features.
  • The refined locus advances the search for the causative genetic defect in XMEA.
  • The comprehensive gene map and screening provide a foundation for further investigation.

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