Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy

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http://hdl.handle.net/10138/236600

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Munteanu , I , Kalimo , H , Saraste , A , Nishino , I & Minassian , B A 2017 , ' Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy ' , Neuromuscular Disorders , vol. 27 , no. 2 , pp. 185-187 . https://doi.org/10.1016/j.nmd.2016.10.007

Title: Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy
Author: Munteanu, Iulia; Kalimo, Hannu; Saraste, Antti; Nishino, Ichizo; Minassian, Berge A.
Contributor: University of Helsinki, Department of Pathology
Date: 2017-02
Language: eng
Number of pages: 3
Belongs to series: Neuromuscular Disorders
ISSN: 0960-8966
URI: http://hdl.handle.net/10138/236600
Abstract: X-linked myopathy with excessive autophagy (XMEA), caused by mutations of the VMA21 gene, is a strictly skeletal muscle disease. Extensive studies in yeast established VMA21 as the master assembly chaperone of V-ATPase, the complex multisubunit proton pump that acidifies organelles and that is vital to all mammalian tissues. As such, skeletal muscle disease exclusivity in XMEA is highly surprising. We now show that the severest VMA21 mutation, c.164-6t>g, does result in XMEA-typical pathology with autophagic vacuolar changes outside skeletal muscle, namely in the heart. However, even patients with this mutation do not exhibit clinical extramuscular disease, including cardiac disease, despite extreme skeletal muscle wasting to the extent of ventilation dependence. Uncovering the unique skeletal muscle vulnerability to defective organellar acidification, and resultant tissue-destructive excessive autophagy, will be informative to the understanding of muscle physiology. Alternatively, understanding extramuscular resistance to VMA21 mutation might disclose heretofore unknown mammalian V-ATPase assembly chaperones other than VMA21. (C) 2016 Elsevier B.V. All rights reserved.
Subject: XMEA
LAMP2
Autophagy
Lysosome
Congenital
CAVM
Acidification
DANON-DISEASE
DEFICIENCY
ATPASE
3112 Neurosciences
3124 Neurology and psychiatry
3111 Biomedicine
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