Commentary 10.1172/JCI132442
1Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, Connecticut, USA.
2Department of Cell Biology, Yale School of Medicine, New Haven, Connecticut, USA.
Address correspondence to: Christian Schlieker, Yale University, Bass 229, 266 Whitney Avenue, New Haven Connecticut 06511, USA. Phone: 203.432.5035; Email: christian.schlieker@yale.edu.
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1Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, Connecticut, USA.
2Department of Cell Biology, Yale School of Medicine, New Haven, Connecticut, USA.
Address correspondence to: Christian Schlieker, Yale University, Bass 229, 266 Whitney Avenue, New Haven Connecticut 06511, USA. Phone: 203.432.5035; Email: christian.schlieker@yale.edu.
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Schlieker, C.
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First published October 7, 2019 - More info
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.
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