Semaphorin 7A: A novel marker of disease activity in Gaucher disease.
Journal
American journal of hematology
ISSN: 1096-8652
Titre abrégé: Am J Hematol
Pays: United States
ID NLM: 7610369
Informations de publication
Date de publication:
05 2020
05 2020
Historique:
received:
18
10
2019
revised:
16
01
2020
accepted:
21
01
2020
pubmed:
29
1
2020
medline:
4
6
2020
entrez:
29
1
2020
Statut:
ppublish
Résumé
Gaucher disease (GD) is a recessively inherited lysosomal storage disorder in which sphingolipids accumulates in the macrophages that transform into Gaucher cells. A growing body of evidence indicates that red blood cells (RBCs) represent important actors in GD pathophysiology. We previously demonstrated that altered RBC properties including increased Lyso-GL1 levels, dyserythropoiesis, and iron metabolism defect in GD patients contribute to anemia and hyperferritinemia. Since RBC defects also correlated well with markers of GD severity and were normalized under enzyme replacement therapy (ERT), the identification of molecules that are deregulated in GD RBCs represents an important issue in the search of pertinent markers of the disease. Here, we found a decreased expression of the GPI-anchored cell surface protein Semaphorin 7A (Sema7A) in RBCs from untreated GD (GD UT) patients, in parallel with increased levels of the soluble form in the plasma. Sema7A plays a role in neural guidance, atherosclerosis, and inflammatory diseases and represents a promigratory cue in physiological and pathological conditions. We showed that the decreased expression of Sema7A in RBCs correlated with their abnormal properties and with markers of GD activity. Interestingly, ERT restored the level of Sema7A to normal values both in RBCs and in plasma from GD patients. We then proposed that SemaA7A represents a simple and pertinent marker of inflammation in GD. Finally, because Sema7A is known to regulate the activity of immune cells, the increased level of soluble Sema7A in GD patients could propagate inflammation in several tissues.
Substances chimiques
Semaphorins
0
Types de publication
Journal Article
Multicenter Study
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
483-491Subventions
Organisme : Agence Nationale de la Recherche
ID : ANR-18-IDEX-0001
Pays : International
Organisme : LabEx GR-Ex
ID : ANR-11-LABX-0051
Pays : International
Informations de copyright
© 2020 Wiley Periodicals, Inc.
Références
Grabowski GA, Zimran A, Ida H. Gaucher disease types 1 and 3: phenotypic characterization of large populations from the ICGG Gaucher Registry. Am J Hematol. 2015;90(suppl 1):S12-S18.
Boot RG, Verhoek M, de Fost M, et al. Marked elevation of the chemokine CCL18/PARC in Gaucher disease: a novel surrogate marker for assessing therapeutic intervention. Blood. 2004;103(1):33-39.
Deegan PB, Cox TM. Clinical evaluation of biomarkers in Gaucher disease. Acta Paediatr Suppl. 2005;94(447):47-50. discussion 37-48.
Hollak CE, van Weely S, van Oers MH, Aerts JM. Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest. 1994;93(3):1288-1292.
Raskovalova T, Deegan PB, Yang R, et al. Plasma chitotriosidase activity versus CCL18 level for assessing type I Gaucher disease severity: protocol for a systematic review with meta-analysis of individual participant data. Syst Rev. 2017;6(1):87.
Murugesan V, Chuang WL, Liu J, et al. Glucosylsphingosine is a key biomarker of Gaucher disease. Am J Hematol. 2016;91(11):1082-1089.
Rolfs A, Giese AK, Grittner U, et al. Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients. PLoS One. 2013;8(11):e79732.
Franco M, Collec E, Connes P, et al. Abnormal properties of red blood cells suggest a role in the pathophysiology of Gaucher disease. Blood. 2013;121(3):546-555.
Lecourt S, Mouly E, Freida D, et al. A prospective study of bone marrow hematopoietic and mesenchymal stem cells in type 1 Gaucher disease patients. PLoS One. 2013;8(7):e69293.
Liu J, Halene S, Yang M, et al. Gaucher disease gene GBA functions in immune regulation. Proc Natl Acad Sci U S A. 2012;109(25):10018-10023.
Mistry PK, Liu J, Yang M, et al. Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage. Proc Natl Acad Sci U S A. 2010;107(45):19473-19478.
Franco M, Reihani N, Marin M, et al. Effect of velaglucerase alfa enzyme replacement therapy on red blood cell properties in Gaucher disease. Am J Hematol. 2017;92(9):E561-E563.
Reihani N, Arlet JB, Dussiot M, et al. Unexpected macrophage-independent dyserythropoiesis in Gaucher disease. Haematologica. 2016;101(12):1489-1498.
Chipeaux C, de Person M, Burguet N, et al. Optimization of ultra-high pressure liquid chromatography - tandem mass spectrometry determination in plasma and red blood cells of four sphingolipids and their evaluation as biomarker candidates of Gaucherʼs disease. J Chromatogr A. 2017;1525:116-125.
Pasterkamp RJ, Peschon JJ, Spriggs MK, Kolodkin AL. Semaphorin 7A promotes axon outgrowth through integrins and MAPKs. Nature. 2003;424(6947):398-405.
Fong KP, Barry C, Tran AN, et al. Deciphering the human platelet sheddome. Blood. 2011;117(1):e15-e26.
Xie J, Wang H. Semaphorin 7A as a potential immune regulator and promising therapeutic target in rheumatoid arthritis. Arthritis Res Ther. 2017;19(1):10.
Mine T, Harada K, Matsumoto T, et al. CDw108 expression during T-cell development. Tissue Antigens. 2000;55(5):429-436.
Suzuki K, Okuno T, Yamamoto M, et al. Semaphorin 7A initiates T-cell-mediated inflammatory responses through alpha1beta1 integrin. Nature. 2007;446(7136):680-684.
van Rijn A, Paulis L, te Riet J, et al. Semaphorin 7A promotes chemokine-driven dendritic cell migration. J Immunol. 2016;196(1):459-468.
Hu S, Liu Y, You T, et al. Vascular semaphorin 7A upregulation by disturbed flow promotes atherosclerosis through endothelial beta1 integrin. Arterioscler Thromb Vasc Biol. 2018;38(2):335-343.
Delorme G, Saltel F, Bonnelye E, Jurdic P, Machuca-Gayet I. Expression and function of semaphorin 7A in bone cells. Biol Cell. 2005;97(7):589-597.
Seltsam A, Strigens S, Levene C, et al. The molecular diversity of Sema7A, the semaphorin that carries the JMH blood group antigens. Transfusion. 2007;47(1):133-146.
Morote-Garcia JC, Napiwotzky D, Kohler D, Rosenberger P. Endothelial Semaphorin 7A promotes neutrophil migration during hypoxia. Proc Natl Acad Sci U S A. 2012;109(35):14146-14151.
Scott GA, McClelland LA, Fricke AF. Semaphorin 7a promotes spreading and dendricity in human melanocytes through beta1-integrins. J Invest Dermatol. 2008;128(1):151-161.
Holmes S, Downs AM, Fosberry A, et al. Sema7A is a potent monocyte stimulator. Scand J Immunol. 2002;56(3):270-275.
Liu LN, Wang P, Zou YF, et al. Semaphorin-3A, semaphorin-7A gene single nucleotide polymorphisms, and systemic lupus erythematosus susceptibility. Autoimmunity. 2019;52(4):161-167.
Elder AM, Tamburini BAJ, Crump LS, et al. Semaphorin 7A promotes macrophage-mediated lymphatic remodeling during postpartum mammary gland involution and in breast cancer. Cancer Res. 2018;78(22):6473-6485.
Steck TL, Kant JA. Preparation of impermeable ghosts and inside-out vesicles from human erythrocyte membranes. Methods Enzymol. 1974;31:172-180.
Lelkens CC, Noorman F, Koning JG, et al. Stability after thawing of RBCs frozen with the high- and low-glycerol method. Transfusion. 2003;43(2):157-164.
Gras C, Eiz-Vesper B, Seltsam A, Immenschuh S, Blasczyk R, Figueiredo C. Semaphorin 7A protein variants differentially regulate T-cell activity. Transfusion. 2013;53(2):270-283.
Negishi-Koga T, Takayanagi H. Bone cell communication factors and Semaphorins. Bonekey Rep. 2012;1:183.
Worzfeld T, Offermanns S. Semaphorins and plexins as therapeutic targets. Nat Rev Drug Discov. 2014;13(8):603-621.
Nishide M, Kumanogoh A. The role of semaphorins in immune responses and autoimmune rheumatic diseases. Nat Rev Rheumatol. 2018;14(1):19-31.
Campeau PM, Rafei M, Boivin MN, Sun Y, Grabowski GA, Galipeau J. Characterization of Gaucher disease bone marrow mesenchymal stromal cells reveals an altered inflammatory secretome. Blood. 2009;114(15):3181-3190.
Moran MT, Schofield JP, Hayman AR, Shi GP, Young E, Cox TM. Pathologic gene expression in Gaucher disease: up-regulation of cysteine proteinases including osteoclastic cathepsin K. Blood. 2000;96(5):1969-1978.
Kramer G, Wegdam W, Donker-Koopman W, et al. Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models. FEBS Open Bio. 2016;6(9):902-913.
Rose AA, Annis MG, Dong Z, et al. ADAM10 releases a soluble form of the GPNMB/Osteoactivin extracellular domain with angiogenic properties. PLoS One. 2010;5(8):e12093.
Gervas-Arruga J, Cebolla JJ, de Blas I, Roca M, Pocovi M, Giraldo P. The influence of genetic variability and proinflammatory status on the development of bone disease in patients with Gaucher disease. PLoS One. 2015;10(5):e0126153.
Jaimes Y, Gras C, Goudeva L, et al. Semaphorin 7A inhibits platelet production from CD34+ progenitor cells. J Thromb Haemost. 2012;10(6):1100-1108.