Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance

Molecular Genetics and Metabolism

Volumn 105, Issue 4, 2012, Pages 585-589

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

^a UNIVERSITY OF PARMA   (Italy)

^b BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^c BELLVITGE BIOMEDICAL RESEARCH INSTITUTE IDIBELL   (Spain)

^d UNIVERSITY OF PAVIA   (Italy)

Author keywords

Arginine; Macrophages; Nitric oxide; Phagocytosis

Indexed keywords

ARGININE; CITRULLINE; FERRITIN; LACTATE DEHYDROGENASE; PROTEIN; SLC7A7 PROTEIN; TRIACYLGLYCEROL; UNCLASSIFIED DRUG;

ADULT; AMINO ACID TRANSPORT; ARTICLE; CASE REPORT; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENOTYPE; GROWTH DISORDER; HEPATOMEGALY; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; HYPERAMMONEMIA; IMMUNE DEFICIENCY; KIDNEY DYSFUNCTION; LUNG DISEASE; LYSINURIC PROTEIN INTOLERANCE; MACROPHAGE; MALE; MOLECULAR INTERACTION; OSTEOPENIA; PERIPHERAL BLOOD MONONUCLEAR CELL; PHAGOCYTOSIS; PRIORITY JOURNAL; RECURRENT DISEASE; SPLENOMEGALY;

ADULT; AMINO ACID METABOLISM, INBORN ERRORS; ANTIGENS, CD98 LIGHT CHAINS; ARGININE; FEMALE; HUMANS; LYSINE; MACROPHAGES; MALE; MUTATION; PHAGOCYTOSIS; YOUNG ADULT;

EID: 84858697771     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.01.008     Document Type: Article

References (25)

1. Palacin M., Borsani G., Sebastio G. The molecular bases of cystinuria and lysinuric protein intolerance. Curr. Opin. Genet. Dev. 2001, 11:328-335.
2. Borsani G., Bassi M.T., Sperandeo M.P., De Grandi A., Buoninconti A., Riboni M., Manzoni M., Incerti B., Pepe A., Andria G., Ballabio A., Sebastio G. SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat. Genet. 1999, 21:297-301.
3. Torrents D., Estevez R., Pineda M., Fernandez E., Lloberas J., Shi Y.B., Zorzano A., Palacin M. Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance. J. Biol. Chem. 1998, 273:32437-32445.
4. Verrey F., Closs E.I., Wagner C.A., Palacin M., Endou H., Kanai Y. CATs and HATs: the SLC7 family of amino acid transporters. Pflugers. Arch. 2004, 447:532-542.
5. Simell O., Perheentupa J., Rapola J., Visakorpi J.K., Eskelin L.E. Lysinuric protein intolerance. Am. J. Med. 1975, 59:229-240.
6. Sperandeo M.P., Bassi M.T., Riboni M., Parenti G., Buoninconti A., Manzoni M., Incerti B., Larocca M.R., Di Rocco M., Strisciuglio P., Dianzani I., Parini R., Candito M., Endo F., Ballabio A., Andria G., Sebastio G., Borsani G. Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance. Am. J. Hum. Genet. 2000, 66:92-99.
7. Trapnell B.C., Whitsett J.A., Nakata K. Pulmonary alveolar proteinosis. N. Engl. J. Med. 2003, 349:2527-2539.
8. Duval M., Fenneteau O., Doireau V., Faye A., Emilie D., Yotnda P., Drapier J.C., Schlegel N., Sterkers G., de Baulny H.O., Vilmer E. Intermittent hemophagocytic lymphohistiocytosis is a regular feature of lysinuric protein intolerance. J. Pediatr. 1999, 134:236-239.
9. Yoshida Y., Machigashira K., Suehara M., Arimura H., Moritoyo T., Nagamatsu K., Osame M. Immunological abnormality in patients with lysinuric protein intolerance. J. Neurol. Sci. 1995, 134:178-182.
10. Barilli A., Rotoli B.M., Visigalli R., Bussolati O., Gazzola G.C., Kadija Z., Rodi G., Mariani F., Ruzza M.L., Luisetti M., Dall'asta V. In lysinuric protein intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages. Orphanet J. Rare Dis. 2010, 5:32.
11. Parini R., Vegni M., Pontiggia M., Melotti D., Corbetta C., Rossi A., Piceni Sereni L. A difficult diagnosis of lysinuric protein intolerance: association with glucose-6-phosphate dehydrogenase deficiency. J. Inherit. Metab. Dis. 1991, 14:833-834.
12. Ceruti M., Rodi G., Stella G.M., Adami A., Bolongaro A., Baritussio A., Pozzi E., Luisetti M. Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report. Orphanet J. Rare Dis. 2007, 2:14.
13. Dionisi-Vici C., De Felice L., el Hachem M., Bottero S., Rizzo C., Paoloni A., Goffredo B., Sabetta G., Caniglia M. Intravenous immune globulin in lysinuric protein intolerance. J. Inherit. Metab. Dis. 1998, 21:95-102.
14. Rotoli B.M., Bussolati O., Sala R., Barilli A., Talarico E., Gazzola G.C., Dall'Asta V. INFgamma stimulates arginine transport through system y+L in human monocytes. FEBS Lett. 2004, 571:177-181.
15. Shiratsuchi H., Basson M.D. Extracellular pressure stimulates macrophage phagocytosis by inhibiting a pathway involving FAK and ERK. Am. J. Physiol. Cell Physiol. 2004, 286:C1358-C1366.
16. Shibata Y., Berclaz P.Y., Chroneos Z.C., Yoshida M., Whitsett J.A., Trapnell B.C. GM-CSF regulates alveolar macrophage differentiation and innate immunity in the lung through PU.1. Immunity 2001, 15:557-567.
17. Uchida K., Nakata K., Suzuki T., Luisetti M., Watanabe M., Koch D.E., Stevens C.A., Beck D.C., Denson L.A., Carey B.C., Keicho N., Krischer J.P., Yamada Y., Trapnell B.C. Granulocyte/macrophage-colony-stimulating factor autoantibodies and myeloid cell immune functions in healthy subjects. Blood 2009, 113:2547-2556.
18. Seymour J.F., Presneill J.J. Pulmonary alveolar proteinosis: progress in the first 44years. Am. J. Respir. Crit. Care Med. 2002, 166:215-235.
19. Trapnell B.C., Carey B.C., Uchida K., Suzuki T. Pulmonary alveolar proteinosis, a primary immunodeficiency of impaired GM-CSF stimulation of macrophages. Curr. Opin. Immunol. 2009, 21:514-521.
20. Douda D.N., Farmakovski N., Dell S., Grasemann H., Palaniyar N. SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance. Orphanet J. Rare Dis. 2009, 4:29.
21. Savill J., Dransfield I., Gregory C., Haslett C. A blast from the past: clearance of apoptotic cells regulates immune responses. Nat. Rev. Immunol. 2002, 2:965-975.
22. Di Rocco M., Buoncompagni A., Gattorno M., Picco P., Vignola S., Borrone C. Complications of lysinuric protein intolerance must be treated with immunosuppressive drugs. J. Inherit. Metab. Dis. 1998, 21:675-676.
23. Mannucci L., Emma F., Markert M., Bachmann C., Boulat O., Carrozzo R., Rizzoni G., Dionisi-Vici C. Increased NO production in lysinuric protein intolerance. J. Inherit. Metab. Dis. 2005, 28:123-129.
24. Sebastio G., Sperandeo M.P., Andria G. Lysinuric protein intolerance: reviewing concepts on a multisystem disease. Am. J. Med. Genet. C Semin. Med. Genet. 2011, 157:54-62.
25. Gupta S., Weitzman S. Primary and secondary hemophagocytic lymphohistiocytosis: clinical features, pathogenesis and therapy. Expert. Rev. Clin. Immunol. 2010, 6:137-154.