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The repertoire of λ light chains causing predominant amyloid heart involvement and identification of a preferentially involved germline gene, IGLV1-44.
Blood. 2012 Jan 05; 119(1):144-50.Blood

Abstract

Monoclonal Ig light chains (LC) can be responsible for pathologic conditions in humans, as in systemic amyloid light amyloidosis. Protean clinical manifestations characterize this disorder with the most varied combination of symptoms generated by different degrees of diverse organ involvement. Kidney and heart are most frequently interested, with major heart involvement as the most relevant prognostic factor. The identification of the underlying mechanism involved in organ targeting is of major relevance for the pathobiology of this disorder. To this aim, we characterized the repertoire of variable region germline genes of λ LC preferentially targeting the heart and compared it with the repertoire of LC that do not in a case-control study. We found that the repertoires were highly restricted, showing preferential use of the same few germline genes but with a different frequency pattern. A single gene, IGVL1-44, was found associated with a 5-fold increase in the odds of dominant heart involvement (after adjusting for confounders in a multivariable logistic model). These results support an involvement of LC genetics in the determination of organ targeting. Study of the characteristics of IGVL1-44-LC with, and of the minority without, heart involvement might lead to identification of LC/tissue interactions.

Authors+Show Affiliations

Amyloid Research and Treatment Center, Biotechnology Research Laboratories, Pavia, Italy. v.perfetti@smatteo.pv.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article

Language

eng

PubMed ID

22067386

Citation

Perfetti, Vittorio, et al. "The Repertoire of Λ Light Chains Causing Predominant Amyloid Heart Involvement and Identification of a Preferentially Involved Germline Gene, IGLV1-44." Blood, vol. 119, no. 1, 2012, pp. 144-50.
Perfetti V, Palladini G, Casarini S, et al. The repertoire of λ light chains causing predominant amyloid heart involvement and identification of a preferentially involved germline gene, IGLV1-44. Blood. 2012;119(1):144-50.
Perfetti, V., Palladini, G., Casarini, S., Navazza, V., Rognoni, P., Obici, L., Invernizzi, R., Perlini, S., Klersy, C., & Merlini, G. (2012). The repertoire of λ light chains causing predominant amyloid heart involvement and identification of a preferentially involved germline gene, IGLV1-44. Blood, 119(1), 144-50. https://doi.org/10.1182/blood-2011-05-355784
Perfetti V, et al. The Repertoire of Λ Light Chains Causing Predominant Amyloid Heart Involvement and Identification of a Preferentially Involved Germline Gene, IGLV1-44. Blood. 2012 Jan 5;119(1):144-50. PubMed PMID: 22067386.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The repertoire of λ light chains causing predominant amyloid heart involvement and identification of a preferentially involved germline gene, IGLV1-44. AU - Perfetti,Vittorio, AU - Palladini,Giovanni, AU - Casarini,Simona, AU - Navazza,Valentina, AU - Rognoni,Paola, AU - Obici,Laura, AU - Invernizzi,Rosangela, AU - Perlini,Stefano, AU - Klersy,Catherine, AU - Merlini,Giampaolo, Y1 - 2011/11/08/ PY - 2011/11/10/entrez PY - 2011/11/10/pubmed PY - 2012/2/24/medline SP - 144 EP - 50 JF - Blood JO - Blood VL - 119 IS - 1 N2 - Monoclonal Ig light chains (LC) can be responsible for pathologic conditions in humans, as in systemic amyloid light amyloidosis. Protean clinical manifestations characterize this disorder with the most varied combination of symptoms generated by different degrees of diverse organ involvement. Kidney and heart are most frequently interested, with major heart involvement as the most relevant prognostic factor. The identification of the underlying mechanism involved in organ targeting is of major relevance for the pathobiology of this disorder. To this aim, we characterized the repertoire of variable region germline genes of λ LC preferentially targeting the heart and compared it with the repertoire of LC that do not in a case-control study. We found that the repertoires were highly restricted, showing preferential use of the same few germline genes but with a different frequency pattern. A single gene, IGVL1-44, was found associated with a 5-fold increase in the odds of dominant heart involvement (after adjusting for confounders in a multivariable logistic model). These results support an involvement of LC genetics in the determination of organ targeting. Study of the characteristics of IGVL1-44-LC with, and of the minority without, heart involvement might lead to identification of LC/tissue interactions. SN - 1528-0020 UR - https://www.unboundmedicine.com/medline/citation/22067386/The_repertoire_of_λ_light_chains_causing_predominant_amyloid_heart_involvement_and_identification_of_a_preferentially_involved_germline_gene_IGLV1_44_ L2 - https://ashpublications.org/blood/article-lookup/doi/10.1182/blood-2011-05-355784 DB - PRIME DP - Unbound Medicine ER -