Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance

Amelia Barilli, Bianca Maria Rotoli, Rossana Visigalli, Ovidio Bussolati, Gian C. Gazzola, Rita Gatti, Carlo Dionisi-Vici, Diego Martinelli, Bianca M. Goffredo, Mariona Font-Llitjós, Francesca Mariani, Maurizio Luisetti, Valeria Dall'Asta

Research output: Contribution to journalArticlepeer-review


Lysinuric Protein Intolerance (LPI, MIM 222700) is a recessive aminoaciduria caused by defective cationic amino acid transport in epithelial cells of intestine and kidney. SLC7A7, the gene mutated in LPI, codifies for the y+LAT1 subunit of system y +L amino acid transporter. LPI patients frequently display severe complications, such as pulmonary disease, haematological abnormalities and disorders of the immune response. The transport defect may explain only a part of the clinical aspects of the disease, while the mechanisms linking the genetic defect to the clinical features of the patients remain thus far obscure. The aim of the study is to investigate the consequences of SLC7A7 mutations on specific macrophage functions, so as to evaluate if a macrophage dysfunction may have a role in the development of pulmonary and immunological complications of LPI.The results presented 1) confirm previous data obtained in one LPI patient, demonstrating that arginine influx through system y +L is markedly compromised in LPI macrophages; 2) demonstrate that also system y +L-mediated arginine efflux is significantly lower in LPI macrophages than in normal cells and 3) demonstrate that the phagocytic activity of LPI macrophages is severely impaired.In conclusion, SLC7A7/y. +. LAT1 mutations lead to a defective phenotype of macrophages, supporting the pathogenetic role of these cells in the development of LPI-associated complications.

Original languageEnglish
Pages (from-to)585-589
Number of pages5
JournalMolecular Genetics and Metabolism
Issue number4
Publication statusPublished - Apr 2012


  • Arginine
  • Macrophages
  • Nitric oxide
  • Phagocytosis

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism


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