PUBLICATION

Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons

Authors
Lawlor, M.W., Beggs, A.H., Buj-Bello, A., Childers, M.K., Dowling, J.J., James, E.S., Meng, H., Moore, S.A., Prasad, S., Schoser, B., Sewry, C.A.
ID
ZDB-PUB-160130-2
Date
2016
Source
Journal of neuropathology and experimental neurology   75(2): 102-10 (Review)
Registered Authors
Beggs, Alan H., Dowling, Jim
Keywords
Centronuclear, Congenital, Hypotrophy, Myopathy, Myotubular, Myotubularin, Sarcotubular.
MeSH Terms
  • Animals
  • Disease Models, Animal
  • Humans
  • Muscle, Skeletal/pathology*
  • Myopathies, Structural, Congenital/pathology*
  • Species Specificity
PubMed
26823526 Full text @ J. Neuropathol. Exp. Neurol.
Abstract
X-linked myotubular myopathy (XLMTM) is a devastating, rare, congenital myopathy caused by mutations in the MTM1 gene, resulting in a lack of or dysfunction of the enzyme myotubularin. This leads to severe perinatal weakness and distinctive muscle pathology. It was originally thought that XLMTM was related to developmental arrest in myotube maturation; however, the generation and characterization of several animal models have significantly improved our understanding of clinical and pathological aspects of this disorder. Myotubularin is now known to participate in numerous cellular processes including endosomal trafficking, excitation-contraction coupling, cytoskeletal organization, neuromuscular junction structure, autophagy, and satellite cell proliferation and survival. The available vertebrate models of XLMTM, which vary in severity from complete absence to reduced functional levels of myotubularin, recapitulate features of the human disease to a variable extent. Understanding how pathological endpoints in animals with XLMTM translate to human patients will be essential to interpret preclinical treatment trials and translate therapies into human clinical studies. This review summarizes the published animal models of XLMTM, including those of zebrafish, mice, and dogs, with a focus on their pathological features as compared to those seen in human XLMTM patients.
Errata / Notes
This article is corrected by ZDB-PUB-220906-42.
Genes / Markers
Figures
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping