Publication Cover
Amyloid
The Journal of Protein Folding Disorders
Volume 31, 2024 - Issue 2
844
Views
0
CrossRef citations to date
0
Altmetric
Research Articles

Sequence diversity of kappa light chains from patients with AL amyloidosis and multiple myeloma

, , , , , , , , , , , & show all
Pages 86-94 | Received 26 Mar 2023, Accepted 11 Dec 2023, Published online: 11 Jan 2024

References

  • Buxbaum JN, Dispenzieri A, Eisenberg DS, et al. Amyloid nomenclature 2022: update, novel proteins, and recommendations by the international society of amyloidosis (ISA) nomenclature committee. Amyloid. 2022;29(4):213–219. Dec doi: 10.1080/13506129.2022.2147636.
  • Merlini G. AL amyloidosis: from molecular mechanisms to targeted therapies. Hematology Am Soc Hematol Educ Program. 2017;2017(1):1–12. doi: 10.1182/asheducation-2017.1.1.
  • Wechalekar AD, Schonland SO, Kastritis E, et al. A European collaborative study of treatment outcomes in 346 patients with cardiac stage III AL amyloidosis. Blood. 2013;121(17):3420–3427. Apr 25 doi: 10.1182/blood-2012-12-473066.
  • Schroeder HW, Jr., Cavacini L. Structure and function of immunoglobulins. J Allergy Clin Immunol. 2010;125(2 Suppl 2):S41–S52. doi: 10.1016/j.jaci.2009.09.046.
  • Hoehn KB, Fowler A, Lunter G, et al. The diversity and molecular evolution of B-cell receptors during infection. Mol Biol Evol. 2016;33(5):1147–1157. doi: 10.1093/molbev/msw015.
  • Lefranc MP, Lefranc G. Immunoglobulins or antibodies: IMGT(®) bridging genes, structures and functions. Biomedicines. 2020;8(9):319. doi: 10.3390/biomedicines8090319.
  • Gertz MA, Lacy MQ, Dispenzieri A. Immunoglobulin light chain amyloidosis and the kidney. Kidney Int. 2002;61(1):1–9. doi: 10.1046/j.1523-1755.2002.00085.x.
  • Rajkumar SV, Dimopoulos MA, Palumbo A, et al. International myeloma working group updated criteria for the diagnosis of multiple myeloma. Lancet Oncol. 2014;15(12):e538-48–e548. Nov doi: 10.1016/S1470-2045(14)70442-5.
  • Salwender H, Bertsch U, Weisel K, et al. Rationale and design of the German-speaking myeloma multicenter group (GMMG) trial HD6: a randomized phase III trial on the effect of elotuzumab in VRD induction/consolidation and lenalidomide maintenance in patients with newly diagnosed myeloma. BMC Cancer. 2019;19(1):504. doi: 10.1186/s12885-019-5600-x.
  • Goldschmidt H, Mai EK, Bertsch U, et al. Elotuzumab in combination with lenalidomide, bortezomib, dexamethasone and autologous transplantation for Newly-Diagnosed multiple myeloma: results from the randomized phase III GMMG-HD6 trial. Blood. 2021;138(Supplement 1):486–486. doi: 10.1182/blood-2021-147323.
  • Berghaus N, Schreiner S, Granzow M, et al. Analysis of the complete lambda light chain germline usage in patients with AL amyloidosis and dominant heart or kidney involvement. PLoS One. 2022;17(2):e0264407. doi: 10.1371/journal.pone.0264407.
  • Baur J, Berghaus N, Schreiner S, et al. Identification of AL proteins from 10 λ-AL amyloidosis patients by mass spectrometry extracted from abdominal fat and heart tissue. Amyloid. 2022; 30(1):27–37. doi: 10.1080/13506129.2022.2095618.
  • Huhn S. ELDA qASO-PCR for high sensitivity detection of tumor cells in bone marrow and peripheral blood. Method Mol Biol. 2018;1792:1–14.
  • Bolotin DA, Poslavsky S, Mitrophanov I, et al. MiXCR: software for comprehensive adaptive immunity profiling. Nat Methods. 2015;12(5):380–381. doi: 10.1038/nmeth.3364.
  • Retter I, Althaus HH, Münch R, et al. VBASE2, an integrative V gene database. Nucleic Acids Res. 2005;33(Database issue):D671–4. doi: 10.1093/nar/gki088.
  • Duvaud S, Gabella C, Lisacek F, et al. Expasy, the swiss bioinformatics resource portal, as designed by its users. Nucleic Acids Res. 2021;49(W1):W216–w227. doi: 10.1093/nar/gkab225.
  • Howe KL, Achuthan P, Allen J, et al. Ensembl 2021. Nucleic Acids Res. 2021;49(D1):D884–d891. doi: 10.1093/nar/gkaa942.
  • Giudicelli V, Chaume D, Lefranc MP. IMGT/GENE-DB: a comprehensive database for human and mouse immunoglobulin and T cell receptor genes. Nucleic Acids Res. 2005; 33(Database issue):D256–61. doi: 10.1093/nar/gki010.
  • Consortium U. UniProt: the universal protein knowledgebase in 2023. Nucleic Acids Res. 2023; 51(D1):D523–d531.
  • Swindells MB, Porter CT, Couch M, et al. abYsis: integrated antibody sequence and structure-management, analysis, and prediction. J Mol Biol. 2017;429(3):356–364. 3 doi: 10.1016/j.jmb.2016.08.019.
  • Gasteiger E, Hoogland C, Gattiker A, et al. Protein identification and analysis tools on the ExPASy server. In: Walker JM, editor. The proteomics protocols handbook. Totowa, NJ: Humana Press; 2005. p. 571–607.
  • Gupta R, Brunak S. Prediction of glycosylation across the human proteome and the correlation to protein function. Pac Symp Biocomput. 2002;7:310–322.
  • Dittrich T, Bochtler T, Kimmich C, et al. AL amyloidosis patients with low amyloidogenic free light chain levels at first diagnosis have an excellent prognosis. Blood. 2017;130(5):632–642. doi: 10.1182/blood-2017-02-767475.
  • Comenzo RL, Zhang Y, Martinez C, et al. The tropism of organ involvement in primary systemic amyloidosis: contributions of Ig V(L) germ line gene use and clonal plasma cell burden. Blood. 2001;98(3):714–720. doi: 10.1182/blood.v98.3.714.
  • Bellotti V, Mangione P, Merlini G. Review: immunoglobulin light chain amyloidosis–the archetype of structural and pathogenic variability. J Struct Biol. 2000; 130(2–3):280–289. doi: 10.1006/jsbi.2000.4248.
  • Dispenzieri A, Larson DR, Rajkumar SV, et al. N-glycosylation of monoclonal light chains on routine MASS-FIX testing is a risk factor for MGUS progression. Leukemia. 2020;34(10):2749–2753. Oct doi: 10.1038/s41375-020-0940-8.
  • Hora M, Sarkar R, Morris V, et al. MAK33 antibody light chain amyloid fibrils are similar to oligomeric precursors. PLoS One. 2017;12(7):e0181799. doi: 10.1371/journal.pone.0181799.
  • Abraham RS, Geyer SM, Price-Troska TL, et al. Immunoglobulin light chain variable (V) region genes influence clinical presentation and outcome in light chain-associated amyloidosis (AL). Blood. 2003;101(10):3801–3808. doi: 10.1182/blood-2002-09-2707.
  • Kourelis TV, Dasari S, Theis JD, et al. Clarifying immunoglobulin gene usage in systemic and localized immunoglobulin light-chain amyloidosis by mass spectrometry. Blood. 2017;129(3):299–306. doi: 10.1182/blood-2016-10-743997.
  • Connors LH, Jiang Y, Budnik M, et al. Heterogeneity in primary structure, post-translational modifications, and germline gene usage of nine full-length amyloidogenic kappa1 immunoglobulin light chains. Biochemistry. 2007;46(49):14259–14271. doi: 10.1021/bi7013773.
  • Sternke-Hoffmann R, Pauly T, Norrild RK, et al. Widespread amyloidogenicity potential of multiple myeloma patient-derived immunoglobulin light chains. BMC Biol. 2023;21(1):21. doi: 10.1186/s12915-022-01506-w.
  • Poshusta TL, Sikkink LA, Leung N, et al. Mutations in specific structural regions of immunoglobulin light chains are associated with free light chain levels in patients with AL amyloidosis. PLoS One. 2009;4(4):e5169. doi: 10.1371/journal.pone.0005169.
  • Randles EG, Thompson JR, Martin DJ, et al. Structural alterations within native amyloidogenic immunoglobulin light chains. J Mol Biol. 2009;389(1):199–210. doi: 10.1016/j.jmb.2009.04.010.
  • Nevone A, Girelli M, Mangiacavalli S, et al. An N-glycosylation hotspot in immunoglobulin κ light chains is associated with AL amyloidosis. Leukemia. 2022;36(8):2076–2085. doi: 10.1038/s41375-022-01599-w.