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An unbiased approach de-livers unexpected insight into torsin biology
Sarah M. Prophet, Christian Schlieker
Sarah M. Prophet, Christian Schlieker
Published October 7, 2019
Citation Information: J Clin Invest. 2019;129(11):4576-4579. https://doi.org/10.1172/JCI132442.
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Commentary

An unbiased approach de-livers unexpected insight into torsin biology

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Abstract

Mutations affecting the integrity of the essential torsin ATPase/cofactor system have been identified in a steadily increasing number of congenital disorders. Since most of these mutations affect brain function, much of the research has focused on deciphering disease etiology in the brain. However, torsin is expressed in a wide variety of nonneural tissues and is strictly conserved across species, including the lowest metazoans, suggesting that it plays roles extending beyond neurons. In this issue of the JCI, Shin et al. explored torsin function in the mammalian liver. The group reports major defects in hepatic lipid metabolism when the torsin system is compromised in mice. Remarkably, conditional deletion of either torsinA or its cofactor, lamina-associated polypeptide 1 (LAP1), resulted in fatty liver disease and steatohepatitis, likely from a secretion defect of VLDLs. This study considerably expands our understanding of torsin biology, while providing defined opportunities for future investigations of torsin function and dysfunction in human pathologies.

Authors

Sarah M. Prophet, Christian Schlieker

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