Sequence diversity of kappa light chains from patients with AL amyloidosis and multiple myeloma
AL amyloidosis (AL) results from the misfolding of immunoglobulin light chains (IG LCs). Aim of this study was to comprehensively analyse kappa LC sequences from AL patients in comparison with multiple myeloma (MM). We analysed IGKV/IGKJ usage and associated organ tropism and IGKV1/D-33 in terms of...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
11 Jan 2024
|
| In: |
Amyloid
Year: 2024, Jahrgang: 31, Heft: 2, Pages: 86-94 |
| ISSN: | 1744-2818 |
| DOI: | 10.1080/13506129.2023.2295221 |
| Online-Zugang: | Verlag, kostenfrei, Volltext: https://doi.org/10.1080/13506129.2023.2295221
|
| Verfasserangaben: | Sarah Schreiner, Natalie Berghaus, Alexandra M. Poos, Marc S. Raab, Britta Besemer, Roland Fenk, Hartmut Goldschmidt, Elias K. Mai, Carsten Müller-Tidow, Niels Weinhold, Ute Hegenbart, Stefanie Huhn and Stefan O. Schönland |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1885022549 | ||
| 003 | DE-627 | ||
| 005 | 20240930094942.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 240404s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1080/13506129.2023.2295221 |2 doi | |
| 035 | |a (DE-627)1885022549 | ||
| 035 | |a (DE-599)KXP1885022549 | ||
| 035 | |a (OCoLC)1443668154 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Schreiner, Sarah |e VerfasserIn |0 (DE-588)1246986353 |0 (DE-627)1780398808 |4 aut | |
| 245 | 1 | 0 | |a Sequence diversity of kappa light chains from patients with AL amyloidosis and multiple myeloma |c Sarah Schreiner, Natalie Berghaus, Alexandra M. Poos, Marc S. Raab, Britta Besemer, Roland Fenk, Hartmut Goldschmidt, Elias K. Mai, Carsten Müller-Tidow, Niels Weinhold, Ute Hegenbart, Stefanie Huhn and Stefan O. Schönland |
| 264 | 1 | |c 11 Jan 2024 | |
| 300 | |b Illustrationen | ||
| 300 | |a 9 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 04.04.2024 | ||
| 520 | |a AL amyloidosis (AL) results from the misfolding of immunoglobulin light chains (IG LCs). Aim of this study was to comprehensively analyse kappa LC sequences from AL patients in comparison with multiple myeloma (MM). We analysed IGKV/IGKJ usage and associated organ tropism and IGKV1/D-33 in terms of mutational analysis and theoretical biochemical properties. cDNA and bulk RNA sequencing of the LCs of AL and MM patients. We studied 41 AL and 83 MM patients showing that IGKV1 was most expressed among kappa AL and MM, with higher frequency in AL (80% vs. 53%, p = .002). IGKV3 was underrepresented in AL (10% vs. 30%, p = .014). IGKJ2 was more commonly used in AL than in MM (39% vs. 29%). Patients with IGKV1/D-33 were associated with heart involvement (75%, p = .024). IGKV1/D-33-segments of AL had a higher mutation count (AL = 12.0 vs. MM = 10.0). FR3 and CDR3 were most frequently mutated in both, with a median mutation count in FR3 being the highest (AL = 4.0; MM = 3.5) and one mutation hotspot (FR3 (83I)) for IGKV1/D-33/IGKJ2 was associated with cardiac involvement. This study confirmed that germline usage has an influence on AL amyloidosis risk and organ involvement. | ||
| 650 | 4 | |a AL amyloidosis | |
| 650 | 4 | |a Ig-kappa light chain | |
| 650 | 4 | |a immunoglobulin light chain | |
| 650 | 4 | |a LC sequence | |
| 650 | 4 | |a multiple myeloma | |
| 700 | 1 | |a Berghaus, Natalie |d 1994- |e VerfasserIn |0 (DE-588)1246986639 |0 (DE-627)1780399278 |4 aut | |
| 700 | 1 | |a Poos, Alexandra |d 1988- |e VerfasserIn |0 (DE-588)1178400417 |0 (DE-627)1049344812 |0 (DE-576)517770393 |4 aut | |
| 700 | 1 | |a Raab, Marc-Steffen |d 1973- |e VerfasserIn |0 (DE-588)124052460 |0 (DE-627)706520998 |0 (DE-576)293998027 |4 aut | |
| 700 | 1 | |a Besemer, Britta |d 1982- |e VerfasserIn |0 (DE-588)143883828 |0 (DE-627)655894675 |0 (DE-576)33951518X |4 aut | |
| 700 | 1 | |a Fenk, Roland |d 1969- |e VerfasserIn |0 (DE-588)12196616X |0 (DE-627)081651813 |0 (DE-576)293022127 |4 aut | |
| 700 | 1 | |a Goldschmidt, Hartmut |d 1956- |e VerfasserIn |0 (DE-588)102258023X |0 (DE-627)717003809 |0 (DE-576)365637386 |4 aut | |
| 700 | 1 | |a Mai, Elias K. |d 1985- |e VerfasserIn |0 (DE-588)1049182545 |0 (DE-627)781300274 |0 (DE-576)403130999 |4 aut | |
| 700 | 1 | |a Müller-Tidow, Carsten |d 1968- |e VerfasserIn |0 (DE-588)1015101798 |0 (DE-627)705330230 |0 (DE-576)351197893 |4 aut | |
| 700 | 1 | |a Weinhold, Niels |e VerfasserIn |0 (DE-588)141225688 |0 (DE-627)626149576 |0 (DE-576)322607388 |4 aut | |
| 700 | 1 | |a Hegenbart, Ute |e VerfasserIn |0 (DE-588)1028373708 |0 (DE-627)73062157X |0 (DE-576)35901903X |4 aut | |
| 700 | 1 | |a Huhn, Stefanie |d 1982- |e VerfasserIn |0 (DE-588)1014984424 |0 (DE-627)705313190 |0 (DE-576)349876436 |4 aut | |
| 700 | 1 | |a Schönland, Stefan |d 1969- |e VerfasserIn |0 (DE-588)122405226 |0 (DE-627)705896137 |0 (DE-576)293255792 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Amyloid |d Abingdon : Taylor & Francis Group, 1994 |g 31(2024), 2, Seite 86-94 |h Online-Ressource |w (DE-627)385030363 |w (DE-600)2141924-3 |w (DE-576)115781137 |x 1744-2818 |7 nnas |a Sequence diversity of kappa light chains from patients with AL amyloidosis and multiple myeloma |
| 773 | 1 | 8 | |g volume:31 |g year:2024 |g number:2 |g pages:86-94 |g extent:9 |a Sequence diversity of kappa light chains from patients with AL amyloidosis and multiple myeloma |
| 856 | 4 | 0 | |u https://doi.org/10.1080/13506129.2023.2295221 |x Verlag |x Resolving-System |z kostenfrei |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20240404 | ||
| 993 | |a Article | ||
| 994 | |a 2024 | ||
| 998 | |g 122405226 |a Schönland, Stefan |m 122405226:Schönland, Stefan |d 910000 |d 910100 |d 50000 |e 910000PS122405226 |e 910100PS122405226 |e 50000PS122405226 |k 0/910000/ |k 1/910000/910100/ |k 0/50000/ |p 13 |y j | ||
| 998 | |g 1014984424 |a Huhn, Stefanie |m 1014984424:Huhn, Stefanie |d 910000 |d 910100 |e 910000PH1014984424 |e 910100PH1014984424 |k 0/910000/ |k 1/910000/910100/ |p 12 | ||
| 998 | |g 1028373708 |a Hegenbart, Ute |m 1028373708:Hegenbart, Ute |d 910000 |d 910100 |d 50000 |e 910000PH1028373708 |e 910100PH1028373708 |e 50000PH1028373708 |k 0/910000/ |k 1/910000/910100/ |k 0/50000/ |p 11 | ||
| 998 | |g 141225688 |a Weinhold, Niels |m 141225688:Weinhold, Niels |d 910000 |d 910100 |e 910000PW141225688 |e 910100PW141225688 |k 0/910000/ |k 1/910000/910100/ |p 10 | ||
| 998 | |g 1015101798 |a Müller-Tidow, Carsten |m 1015101798:Müller-Tidow, Carsten |d 910000 |d 910100 |e 910000PM1015101798 |e 910100PM1015101798 |k 0/910000/ |k 1/910000/910100/ |p 9 | ||
| 998 | |g 1049182545 |a Mai, Elias K. |m 1049182545:Mai, Elias K. |d 910000 |d 910100 |d 50000 |e 910000PM1049182545 |e 910100PM1049182545 |e 50000PM1049182545 |k 0/910000/ |k 1/910000/910100/ |k 0/50000/ |p 8 | ||
| 998 | |g 102258023X |a Goldschmidt, Hartmut |m 102258023X:Goldschmidt, Hartmut |d 910000 |d 910100 |e 910000PG102258023X |e 910100PG102258023X |k 0/910000/ |k 1/910000/910100/ |p 7 | ||
| 998 | |g 124052460 |a Raab, Marc-Steffen |m 124052460:Raab, Marc-Steffen |d 910000 |d 910100 |e 910000PR124052460 |e 910100PR124052460 |k 0/910000/ |k 1/910000/910100/ |p 4 | ||
| 998 | |g 1178400417 |a Poos, Alexandra |m 1178400417:Poos, Alexandra |d 910000 |d 910100 |e 910000PP1178400417 |e 910100PP1178400417 |k 0/910000/ |k 1/910000/910100/ |p 3 | ||
| 998 | |g 1246986639 |a Berghaus, Natalie |m 1246986639:Berghaus, Natalie |d 910000 |d 912000 |e 910000PB1246986639 |e 912000PB1246986639 |k 0/910000/ |k 1/910000/912000/ |p 2 | ||
| 998 | |g 1246986353 |a Schreiner, Sarah |m 1246986353:Schreiner, Sarah |d 50000 |e 50000PS1246986353 |k 0/50000/ |p 1 |x j | ||
| 999 | |a KXP-PPN1885022549 |e 4507263743 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"origin":[{"dateIssuedDisp":"11 Jan 2024","dateIssuedKey":"2024"}],"relHost":[{"corporate":[{"display":"International Society of Amyloidosis","role":"isb"}],"disp":"Sequence diversity of kappa light chains from patients with AL amyloidosis and multiple myelomaAmyloid","type":{"media":"Online-Ressource","bibl":"periodical"},"titleAlt":[{"title":"the international journal of experimental and clinical investigation"}],"language":["eng"],"part":{"volume":"31","year":"2024","text":"31(2024), 2, Seite 86-94","issue":"2","extent":"9","pages":"86-94"},"note":["Gesehen am 19.12.24"],"pubHistory":["1.1994 -"],"title":[{"title_sort":"Amyloid","subtitle":"the journal of protein folding disorders : the official journal of the International Society of Amyloidosis","title":"Amyloid"}],"id":{"eki":["385030363"],"issn":["1744-2818"],"zdb":["2141924-3"]},"physDesc":[{"extent":"Online-Ressource"}],"origin":[{"publisher":"Taylor & Francis Group ; Parthenon Publ. ; Informa Healthcare","dateIssuedDisp":"1994-","dateIssuedKey":"1994","publisherPlace":"Abingdon ; Pearl River, NY ; London [u.a.]"}],"recId":"385030363"}],"physDesc":[{"noteIll":"Illustrationen","extent":"9 S."}],"id":{"doi":["10.1080/13506129.2023.2295221"],"eki":["1885022549"]},"title":[{"title_sort":"Sequence diversity of kappa light chains from patients with AL amyloidosis and multiple myeloma","title":"Sequence diversity of kappa light chains from patients with AL amyloidosis and multiple myeloma"}],"type":{"bibl":"article-journal","media":"Online-Ressource"},"note":["Gesehen am 04.04.2024"],"person":[{"given":"Sarah","display":"Schreiner, Sarah","family":"Schreiner","role":"aut"},{"given":"Natalie","display":"Berghaus, Natalie","role":"aut","family":"Berghaus"},{"display":"Poos, Alexandra","given":"Alexandra","family":"Poos","role":"aut"},{"role":"aut","family":"Raab","display":"Raab, Marc-Steffen","given":"Marc-Steffen"},{"role":"aut","family":"Besemer","display":"Besemer, Britta","given":"Britta"},{"given":"Roland","display":"Fenk, Roland","role":"aut","family":"Fenk"},{"display":"Goldschmidt, Hartmut","given":"Hartmut","role":"aut","family":"Goldschmidt"},{"display":"Mai, Elias K.","given":"Elias K.","family":"Mai","role":"aut"},{"display":"Müller-Tidow, Carsten","given":"Carsten","family":"Müller-Tidow","role":"aut"},{"role":"aut","family":"Weinhold","given":"Niels","display":"Weinhold, Niels"},{"given":"Ute","display":"Hegenbart, Ute","family":"Hegenbart","role":"aut"},{"display":"Huhn, Stefanie","given":"Stefanie","role":"aut","family":"Huhn"},{"role":"aut","family":"Schönland","display":"Schönland, Stefan","given":"Stefan"}],"recId":"1885022549","language":["eng"],"name":{"displayForm":["Sarah Schreiner, Natalie Berghaus, Alexandra M. Poos, Marc S. Raab, Britta Besemer, Roland Fenk, Hartmut Goldschmidt, Elias K. Mai, Carsten Müller-Tidow, Niels Weinhold, Ute Hegenbart, Stefanie Huhn and Stefan O. Schönland"]}} | ||
| SRT | |a SCHREINERSSEQUENCEDI1120 | ||