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

PLoS One. 2016 May 24;11(5):e0156113. doi: 10.1371/journal.pone.0156113. eCollection 2016.

Authors

Umberto Vespasiani-Gentilucci¹, Paolo Gallo¹, Fiorella Piemonte², Elisabetta Riva³, Aldostefano Porcari¹, Ferruccio Vorini¹, Giulia Tozzi², Livia Piccioni³, Giovanni Galati¹, Antonio De Vincentis¹, Simone Carotti⁴, Sergio Morini⁴, Jessica D'Amico², Silvia Angeletti⁵, Claudio Pedone⁶, Antonio Picardi¹

Affiliations

¹ Internal Medicine and Hepatology Unit, University Campus Bio-Medico, Rome, Italy.
² Unit of Neuromuscolar and Neurodegenerative Diseases, Children's Hospital and Research Institute "Bambino Gesù", Rome, Italy.
³ Virology Unit, University Campus Bio-Medico, Rome, Italy.
⁴ Laboratory of Microscopic and Ultrastructural Anatomy, CIR, University Campus Bio-Medico, Rome, Italy.
⁵ Clinical Pathology and Microbiology Laboratory, University Campus Bio-Medico, Rome, Italy.
⁶ Area of Geriatrics, University Campus Bio-Medico, Rome, Italy.

Abstract

Liver cirrhosis is characterized by a severe acquired reduction of LAL-activity, the precise causes and consequences of which need to be further addressed. DBS-determined lysosomal enzyme activities seem to be affected by white blood cell and platelet counts, and the specificity of these tests can be reduced when applied to determined populations, such as cirrhotics.

MeSH terms

Aged
Down-Regulation
Dried Blood Spot Testing
Female
Genetic Predisposition to Disease
High-Throughput Nucleotide Sequencing
Humans
Leukocyte Count
Liver Cirrhosis / congenital*
Liver Cirrhosis / enzymology*
Liver Cirrhosis / etiology
Liver Cirrhosis / genetics
Male
Middle Aged
Platelet Count
Polymorphism, Single Nucleotide*
Sequence Analysis, DNA
Sterol Esterase / genetics*
Sterol Esterase / metabolism*

Substances

LIPA protein, human
Sterol Esterase

Supplementary concepts

Cirrhosis, Cryptogenic

Grants and funding

The authors received no specific funding for this work.