title: [Molecular defect of ceruloplasmin synthesis and maturation in Wilson-Konovalov disease].
abstract: The radioimmunochemical study of ceruloplasmin-synthesizing polyribosomes was carried out using bioptic liver specimens obtained from fourteen homozygous patients with hepatolenticular degeneration (Wilson--Konovalov disease) and from eight control patients with various non-hereditary diseases. The measurement of binding of 125I-antibodies to the nascent polysome-bound ceruloplasmin chains demonstrated that in control patients this protein is only synthesized on membrane-bound polysomes, while free polysomes do not contribute to the synthesis of ceruloplasmin. The majority of homozygous carriers of Wilson--Konovalov mutation (eleven of fourteen) are characterized by the involvement of free, rather than membrane-bound polysomes, in the synthesis of ceruloplasmin. This shift of ceruloplasmin synthesis from membrane-bound to free polysomes seems to be accompanied by disturbances in the cotranslational proteolytic maturation of ceruloplasmin from its biosynthetic precursors. As a result of this defect, a putative of ceruloplasmin (preproceruloplasmin) was detected in the content of Golgi complex as well as in the serum of homozygous patients. This precursor of a molecular weight 84,000 was found neither in Golgi complex, nor in the serum of control subjects.
mesh_terms: D000328:Adult; D001706:Biopsy; D002570:Ceruloplasmin / Q000032:analysis / Q000096:biosynthesis* / Q000235:genetics; D002908:Chronic Disease; D004792:Enzyme Precursors / Q000032:analysis / Q000096:biosynthesis* / Q000235:genetics; D006056:Golgi Apparatus / Q000378:metabolism; D006527:Hepatolenticular Degeneration / Q000235:genetics / Q000378:metabolism*; D006801:Humans; D008099:Liver / Q000378:metabolism; D008107:Liver Diseases / Q000235:genetics / Q000378:metabolism; D008297:Male; D008970:Molecular Weight; D011132:Polyribosomes / Q000378:metabolism
chemical_list: D004792:Enzyme Precursors; C030515:preproceruloplasmin; D002570:Ceruloplasmin
vernacular_title: Molekuliarnyĭ defekt sinteza i sozrevaniia tseruloplasmina pri bolezni Vil'sona-Konovalova.