Gallo G, Goñi F, Boctor F, Vidal R, Kumar A, Stevens F J, Frangione B, Ghiso J
Department of Pathology, New York University Medical Center, New York 10016, USA.
Am J Pathol. 1996 May;148(5):1397-406.
Cardiomyopathy due to monoclonal light chain deposits is a complication of plasma cell disorders. The deposits may be either fibrillar as in light chain amyloid or nonfibrillar as in light chain deposition disease. The reasons for these structural differences are still unknown. We characterized the myocardial deposits by immunohistochemical examination of sections and extraction and biochemical analysis of the tissue deposits in a patient (MCM) who died of myeloma and systemic light chain deposition disease. Amino acid sequence analysis of the extracted nonfibrillar MCM kappa-light chain reveals that it belongs to the L12a germline subset of the kappa(I) protein and contains five distinctive amino acid substitutions (three in the framework region III and two in the complementarity-determining region III) that have not been reported previously in the same positions in other kappa(I) light chains. The theoretically determined isoelectric point (pI 8.21) of the MCM light chain is high compared with the low isoelectric point of other Bence Jones proteins from subjects without light chain deposition disease. The diffuse binding to basement membranes and the high isoelectric point of the MCM kappa-light chain suggest electrostatic interaction as a possible mechanism of tissue deposition. The spatial locations of the five distinctive residues and a sixth rare substitution of the MCM protein modeled on the backbone structure of REI, a kappa(I)-soluble Bence Jones light chain of known three-dimensional structure, may be responsible for protein destabilization, partial unfolding, and aggregation leading to tissue deposition.
单克隆轻链沉积所致心肌病是浆细胞疾病的一种并发症。沉积物可能是纤维状的,如轻链淀粉样变,也可能是非纤维状的,如轻链沉积病。这些结构差异的原因尚不清楚。我们通过对一名死于骨髓瘤和系统性轻链沉积病的患者(MCM)的切片进行免疫组化检查以及对组织沉积物进行提取和生化分析,对心肌沉积物进行了表征。对提取的非纤维状MCM κ轻链的氨基酸序列分析表明,它属于κ(I)蛋白的L12a种系亚群,包含五个独特的氨基酸取代(框架区域III中有三个,互补决定区域III中有两个),这些取代在其他κ(I)轻链的相同位置尚未见报道。与无轻链沉积病受试者的其他本-周蛋白的低等电点相比,MCM轻链的理论等电点(pI 8.21)较高。MCM κ轻链与基底膜的弥漫性结合以及高等电点表明静电相互作用可能是组织沉积的一种机制。根据已知三维结构的κ(I)可溶性本-周轻链REI的主链结构对MCM蛋白的五个独特残基和第六个罕见取代进行建模,其空间位置可能导致蛋白质不稳定、部分展开和聚集,从而导致组织沉积。