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Int. J. Mol. Sci. 2017, 18(6), 1134; doi:10.3390/ijms18061134

A Relative Deficiency of Lysosomal Acid Lypase Activity Characterizes Non-Alcoholic Fatty Liver Disease

1
Unit of Internal Medicine, Departmentt of Medical and Surgical Sciences, University of Bologna, 40136 Bologna, Italy
2
Unit of Neuromuscolar and Neurodegenerative Diseases, Children’s Hospital and Research Institute “Bambino Gesù”, 00165 Rome, Italy
*
Author to whom correspondence should be addressed.
Academic Editors: Amedeo Lonardo and Giovanni Tarantino
Received: 20 April 2017 / Revised: 15 May 2017 / Accepted: 22 May 2017 / Published: 25 May 2017
(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
View Full-Text   |   Download PDF [386 KB, uploaded 25 May 2017]   |  

Abstract

Lysosomal acid lipase (LAL) is a key enzyme in lipid metabolism. Initial reports have suggested a role for a relative acquired LAL deficiency in non-alcoholic fatty liver disease (NAFLD)—however, it is still unclear whether this mechanism is specific for NAFLD. We aimed to determine LAL activity in a cohort of NAFLD subjects and in a control group of hepatitis C virus (HCV)-infected patients, investigating the role of liver cirrhosis. A total of 81 patients with a diagnosis of NAFLD, and 78 matched controls with HCV-related liver disease were enrolled. For each patient, LAL activity was determined on peripheral dried blood spots (DBS) and correlated with clinical and laboratory data. A subgroup analysis among cirrhotic patients was also performed. LAL activity is significantly reduced in NAFLD, compared to that in HCV patients. This finding is particularly evident in the pre-cirrhotic stage of disease. LAL activity is also correlated with platelet and white blood cell count, suggesting an analytic interference of portal-hypertension-induced pancytopenia on DBS-determined LAL activity. NAFLD is characterized by a specific deficit in LAL activity, suggesting a pathogenetic role of LAL. We propose that future studies on this topic should rely on tissue specific analyses, as peripheral blood tests are also influenced by confounding factors. View Full-Text
Keywords: non-alcoholic fatty liver disease; steatosis; steatohepatitis; lysosomal acid lipase; liver cirrhosis non-alcoholic fatty liver disease; steatosis; steatohepatitis; lysosomal acid lipase; liver cirrhosis
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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MDPI and ACS Style

Tovoli, F.; Napoli, L.; Negrini, G.; D’Addato, S.; Tozzi, G.; D’Amico, J.; Piscaglia, F.; Bolondi, L. A Relative Deficiency of Lysosomal Acid Lypase Activity Characterizes Non-Alcoholic Fatty Liver Disease. Int. J. Mol. Sci. 2017, 18, 1134.

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