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An N-glycosylation hotspot in immunoglobulin κ light chains is associated with AL amyloidosis.
Nevone, Alice; Girelli, Maria; Mangiacavalli, Silvia; Paiva, Bruno; Milani, Paolo; Cascino, Pasquale; Piscitelli, Maggie; Speranzini, Valentina; Cartia, Claudio Salvatore; Benvenuti, Pietro; Goicoechea, Ibai; Fazio, Francesca; Basset, Marco; Foli, Andrea; Nanci, Martina; Mazzini, Giulia; Caminito, Serena; Sesta, Melania Antonietta; Casarini, Simona; Rognoni, Paola; Lavatelli, Francesca; Petrucci, Maria Teresa; Olimpieri, Pier Paolo; Ricagno, Stefano; Arcaini, Luca; Merlini, Giampaolo; Palladini, Giovanni; Nuvolone, Mario.
Afiliación
  • Nevone A; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Girelli M; Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  • Mangiacavalli S; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Paiva B; Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  • Milani P; Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  • Cascino P; Clinica Universidad de Navarra, Centro de Investigacion Medica Aplicada (CIMA), CIBER-ONC number CB16/12/00369, Instituto de Investigacion Sanitaria de Navarra (IDISNA), Navarra, Spain.
  • Piscitelli M; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Speranzini V; Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  • Cartia CS; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Benvenuti P; Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  • Goicoechea I; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Fazio F; Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  • Basset M; Dipartimento di Bioscienze, Università Degli Studi di Milano, Milan, Italy.
  • Foli A; Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  • Nanci M; Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  • Mazzini G; Division of Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  • Caminito S; Clinica Universidad de Navarra, Centro de Investigacion Medica Aplicada (CIMA), CIBER-ONC number CB16/12/00369, Instituto de Investigacion Sanitaria de Navarra (IDISNA), Navarra, Spain.
  • Sesta MA; Hematology, Department of Translational and Precision Medicine, Azienda Ospedaliera Policlinico Umberto I, Sapienza University of Rome, Rome, Italy.
  • Casarini S; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Rognoni P; Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  • Lavatelli F; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Petrucci MT; Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  • Olimpieri PP; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Ricagno S; Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  • Arcaini L; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Merlini G; Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  • Palladini G; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
  • Nuvolone M; Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
Leukemia ; 36(8): 2076-2085, 2022 08.
Article en En | MEDLINE | ID: mdl-35610346
Immunoglobulin light chain (AL) amyloidosis is caused by a small, minimally proliferating B-cell/plasma-cell clone secreting a patient-unique, aggregation-prone, toxic light chain (LC). The pathogenicity of LCs is encrypted in their sequence, yet molecular determinants of amyloidogenesis are poorly understood. Higher rates of N-glycosylation among clonal κ LCs from patients with AL amyloidosis compared to other monoclonal gammopathies indicate that this post-translational modification is associated with a higher risk of developing AL amyloidosis. Here, we exploited LC sequence information from previously published amyloidogenic and control clonal LCs and from a series of 220 patients with AL amyloidosis or multiple myeloma followed at our Institutions to define sequence and spatial features of N-glycosylation, combining bioinformatics, biochemical, proteomics, structural and genetic analyses. We found peculiar sequence and spatial pattern of N-glycosylation in amyloidogenic κ LCs, with most of the N-glycosylation sites laying in the framework region 3, particularly within the E strand, and consisting mainly of the NFT sequon, setting them apart with respect to non-amyloidogenic clonal LCs. Our data further support a potential role of N-glycosylation in determining the pathogenic behavior of a subset of amyloidogenic LCs and may help refine current N-glycosylation-based prognostic assessments for patients with monoclonal gammopathies.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Amiloidosis de Cadenas Ligeras de las Inmunoglobulinas / Amiloidosis / Mieloma Múltiple Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Leukemia Asunto de la revista: HEMATOLOGIA / NEOPLASIAS Año: 2022 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Amiloidosis de Cadenas Ligeras de las Inmunoglobulinas / Amiloidosis / Mieloma Múltiple Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Revista: Leukemia Asunto de la revista: HEMATOLOGIA / NEOPLASIAS Año: 2022 Tipo del documento: Article País de afiliación: Italia Pais de publicación: Reino Unido