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Analysis of the complete lambda light chain germline usage in patients with AL amyloidosis and dominant heart or kidney involvement

Light chain amyloidosis is one of the most common forms of systemic amyloidosis. The disease is caused by the misfolding and aggregation of immunoglobulin light chains to insoluble fibrils. These fibrils can deposit in different tissues and organs such as heart and kidney and cause organ impairments...

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Autores principales: Berghaus, Natalie, Schreiner, Sarah, Granzow, Martin, Müller-Tidow, Carsten, Hegenbart, Ute, Schönland, Stefan O., Huhn, Stefanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8880859/
https://www.ncbi.nlm.nih.gov/pubmed/35213605
http://dx.doi.org/10.1371/journal.pone.0264407
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author Berghaus, Natalie
Schreiner, Sarah
Granzow, Martin
Müller-Tidow, Carsten
Hegenbart, Ute
Schönland, Stefan O.
Huhn, Stefanie
author_facet Berghaus, Natalie
Schreiner, Sarah
Granzow, Martin
Müller-Tidow, Carsten
Hegenbart, Ute
Schönland, Stefan O.
Huhn, Stefanie
author_sort Berghaus, Natalie
collection PubMed
description Light chain amyloidosis is one of the most common forms of systemic amyloidosis. The disease is caused by the misfolding and aggregation of immunoglobulin light chains to insoluble fibrils. These fibrils can deposit in different tissues and organs such as heart and kidney and cause organ impairments that define the clinical presentation. In this study, we present an overview of IGLV-IGLJ and IGLC germline utilization in 85 patients classified in three clinically important subgroups with dominant cardiac, renal as well as cardiac and renal involvement. We found that IGLV3 was the most frequently detected IGLV-family in patients with dominant cardiac involvement, whereas in renal patients IGLV1 were most frequently identified. For patients with dominant heart and kidney involvement IGLV6 was the most frequently detected IGLV-family. In more detailed analysis IGLV3-21 was observed as the most dominant IGLV-subfamily for patients with dominant heart involvement and IGLV1-44 as the most frequent IGLV-subfamily in the group of patients with dominant kidney involvement. For patients with dominant heart and kidney involvement IGLV6-57 was the most frequently detected IGLV-subfamily. Additionally, we were able to show an exclusive linkage between IGLJ1 and IGLC1 as well as between IGLJ2 and IGLC2 in the fully assembled IGL mRNA.
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spelling pubmed-88808592022-02-26 Analysis of the complete lambda light chain germline usage in patients with AL amyloidosis and dominant heart or kidney involvement Berghaus, Natalie Schreiner, Sarah Granzow, Martin Müller-Tidow, Carsten Hegenbart, Ute Schönland, Stefan O. Huhn, Stefanie PLoS One Research Article Light chain amyloidosis is one of the most common forms of systemic amyloidosis. The disease is caused by the misfolding and aggregation of immunoglobulin light chains to insoluble fibrils. These fibrils can deposit in different tissues and organs such as heart and kidney and cause organ impairments that define the clinical presentation. In this study, we present an overview of IGLV-IGLJ and IGLC germline utilization in 85 patients classified in three clinically important subgroups with dominant cardiac, renal as well as cardiac and renal involvement. We found that IGLV3 was the most frequently detected IGLV-family in patients with dominant cardiac involvement, whereas in renal patients IGLV1 were most frequently identified. For patients with dominant heart and kidney involvement IGLV6 was the most frequently detected IGLV-family. In more detailed analysis IGLV3-21 was observed as the most dominant IGLV-subfamily for patients with dominant heart involvement and IGLV1-44 as the most frequent IGLV-subfamily in the group of patients with dominant kidney involvement. For patients with dominant heart and kidney involvement IGLV6-57 was the most frequently detected IGLV-subfamily. Additionally, we were able to show an exclusive linkage between IGLJ1 and IGLC1 as well as between IGLJ2 and IGLC2 in the fully assembled IGL mRNA. Public Library of Science 2022-02-25 /pmc/articles/PMC8880859/ /pubmed/35213605 http://dx.doi.org/10.1371/journal.pone.0264407 Text en © 2022 Berghaus et al https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Article
Berghaus, Natalie
Schreiner, Sarah
Granzow, Martin
Müller-Tidow, Carsten
Hegenbart, Ute
Schönland, Stefan O.
Huhn, Stefanie
Analysis of the complete lambda light chain germline usage in patients with AL amyloidosis and dominant heart or kidney involvement
title Analysis of the complete lambda light chain germline usage in patients with AL amyloidosis and dominant heart or kidney involvement
title_full Analysis of the complete lambda light chain germline usage in patients with AL amyloidosis and dominant heart or kidney involvement
title_fullStr Analysis of the complete lambda light chain germline usage in patients with AL amyloidosis and dominant heart or kidney involvement
title_full_unstemmed Analysis of the complete lambda light chain germline usage in patients with AL amyloidosis and dominant heart or kidney involvement
title_short Analysis of the complete lambda light chain germline usage in patients with AL amyloidosis and dominant heart or kidney involvement
title_sort analysis of the complete lambda light chain germline usage in patients with al amyloidosis and dominant heart or kidney involvement
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8880859/
https://www.ncbi.nlm.nih.gov/pubmed/35213605
http://dx.doi.org/10.1371/journal.pone.0264407
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