期刊
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
卷 75, 期 2, 页码 102-110出版社
OXFORD UNIV PRESS INC
DOI: 10.1093/jnen/nlv020
关键词
Congenital; Centronuclear; Hypotrophy; Myopathy; Myotubular; Myotubularin; Sarcotubular
资金
- National Institutes of Health [K08 AR059750, R01 AR044345, R21 AR064503, R01 HL115001, U54 NS053672]
- Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center, Seattle (NIH) [U54 AR065139]
- Association Francaise contre les Myopathies
- Muscular Dystrophy Association
- Joshua Frase Foundation
- Cure CMD
- Cure CMD, Where There's a Will, There's a Cure Foundation
- Foundation Building Strength
- Peter Khuri Myopathy Research Foundation
- Audentes Therapeutics
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.
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