TY - JOUR
T1 - Lysosomal acid lipase activity is reduced both in cryptogenic cirrhosis and in cirrhosis of known etiology
AU - Vespasiani-Gentilucci, Umberto
AU - Gallo, Paolo
AU - Piemonte, Fiorella
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
AU - Angeletti, Silvia
AU - Pedone, Claudio
AU - Picardi, Antonio
PY - 2016/5/1
Y1 - 2016/5/1
N2 - 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
AB - 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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U2 - 10.1371/journal.pone.0156113
DO - 10.1371/journal.pone.0156113
M3 - Article
AN - SCOPUS:84971330347
VL - 11
JO - PLoS One
JF - PLoS One
SN - 1932-6203
IS - 5
M1 - e0156113
ER -