Lysosomal acid lipase activity is reduced both in cryptogenic cirrhosis and in cirrhosis of known etiology

Umberto Vespasiani-Gentilucci; Paolo Gallo; Fiorella Piemonte; Elisabetta Riva; Aldostefano Porcari; Ferruccio Vorini; Giulia Tozzi; Livia Piccioni; Giovanni Galati; Antonio De Vincentis; Simone Carotti; Sergio Morini; Jessica D'Amico; Silvia Angeletti; Claudio Pedone; Antonio Picardi

doi:10.1371/journal.pone.0156113

Lysosomal acid lipase activity is reduced both in cryptogenic cirrhosis and in cirrhosis of known etiology

Umberto Vespasiani-Gentilucci, Paolo Gallo, Fiorella Piemonte, Elisabetta Riva, Aldostefano Porcari, Ferruccio Vorini, Giulia Tozzi, Livia Piccioni, Giovanni Galati, Antonio De Vincentis, Simone Carotti, Sergio Morini, Jessica D'Amico, Silvia Angeletti, Claudio Pedone, Antonio Picardi

Ospedale Pediatrico Bambino Gesu

Research output: Contribution to journal › Article › peer-review

Abstract

Lysosomal acid lipase deficiency (LAL-d) is a rare autosomal recessive disease in which LAL activity is almost absent, with consequent massive microvesicular steatosis evolving to cirrhosis and liver failure. We aimed to determine LAL-activity, and to investigate the most common single nucleotide polymorphism (SNP) affecting the LIPA gene and responsible for 50-70% of LAL-d cases (rs116928232 c.894G>A), in patients with cryptogenic cirrhosis. Sixty-three patients with cryptogenic cirrhosis, 88 cirrhotics of known etiology, and 97 healthy subjects were enrolled. LAL-activity was determined in dried-blood-spot (DBS). The c.894G>A mutation was analyzed by pyrosequencing method in SNP mode. LAL-activity was severely reduced in patients with cryptogenic cirrhosis with respect to healthy subjects [0.62 (0.44-0.86) Vs 0.96 (0.75-1.25) nmol/spot/h, pA SNP except for one patient with HCV cirrhosis. By multivariate analysis, LAL-activity was not associated with age, sex, liver enzymes, liver function or lipid parameters, while it was independently associated with white blood cell (β = 0.2; p

Original language	English
Article number	e0156113
Journal	PLoS One
Volume	11
Issue number	5
DOIs	https://doi.org/10.1371/journal.pone.0156113
Publication status	Published - May 1 2016

ASJC Scopus subject areas

Agricultural and Biological Sciences(all)
Biochemistry, Genetics and Molecular Biology(all)
Medicine(all)

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Vespasiani-Gentilucci, U., Gallo, P., Piemonte, F., Riva, E., Porcari, A., Vorini, F., Tozzi, G., Piccioni, L., Galati, G., De Vincentis, A., Carotti, S., Morini, S., D'Amico, J., Angeletti, S., Pedone, C., & Picardi, A. (2016). Lysosomal acid lipase activity is reduced both in cryptogenic cirrhosis and in cirrhosis of known etiology. PLoS One, 11(5), [e0156113]. https://doi.org/10.1371/journal.pone.0156113

Vespasiani-Gentilucci, U, Gallo, P, Piemonte, F, Riva, E, Porcari, A, Vorini, F, Tozzi, G, Piccioni, L, Galati, G, De Vincentis, A, Carotti, S, Morini, S, D'Amico, J, Angeletti, S, Pedone, C & Picardi, A 2016, 'Lysosomal acid lipase activity is reduced both in cryptogenic cirrhosis and in cirrhosis of known etiology', PLoS One, vol. 11, no. 5, e0156113. https://doi.org/10.1371/journal.pone.0156113

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abstract = "Lysosomal acid lipase deficiency (LAL-d) is a rare autosomal recessive disease in which LAL activity is almost absent, with consequent massive microvesicular steatosis evolving to cirrhosis and liver failure. We aimed to determine LAL-activity, and to investigate the most common single nucleotide polymorphism (SNP) affecting the LIPA gene and responsible for 50-70% of LAL-d cases (rs116928232 c.894G>A), in patients with cryptogenic cirrhosis. Sixty-three patients with cryptogenic cirrhosis, 88 cirrhotics of known etiology, and 97 healthy subjects were enrolled. LAL-activity was determined in dried-blood-spot (DBS). The c.894G>A mutation was analyzed by pyrosequencing method in SNP mode. LAL-activity was severely reduced in patients with cryptogenic cirrhosis with respect to healthy subjects [0.62 (0.44-0.86) Vs 0.96 (0.75-1.25) nmol/spot/h, pA SNP except for one patient with HCV cirrhosis. By multivariate analysis, LAL-activity was not associated with age, sex, liver enzymes, liver function or lipid parameters, while it was independently associated with white blood cell (β = 0.2; p",

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AU - Riva, Elisabetta

AU - Porcari, Aldostefano

AU - Vorini, Ferruccio

AU - Tozzi, Giulia

AU - Piccioni, Livia

AU - Galati, Giovanni

AU - De Vincentis, Antonio

AU - Carotti, Simone

AU - Morini, Sergio

AU - D'Amico, Jessica

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AU - Pedone, Claudio

AU - Picardi, Antonio

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Lysosomal acid lipase activity is reduced both in cryptogenic cirrhosis and in cirrhosis of known etiology

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