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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2022
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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. |
format | Online Article Text |
id | pubmed-8880859 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Public Library of Science |
record_format | MEDLINE/PubMed |
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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