title: Apolipoprotein E Sendai (arginine 145-->proline): a new variant associated with lipoprotein glomerulopathy.
abstract: Lipoprotein glomerulopathy (LPG) is a novel disease characterized by proteinuria, lipoprotein thrombi in the glomeruli, and increased concentration of plasma apolipoprotein (apo) E. It is believed that a genetic disorder of apo E may be present and associated with the disease. Three patients with LPG were examined in this study. The patients' DNA sequences were analyzed, and a nucleotide G to C point mutation in exon 4 of the apo E gene was confirmed in each patient. This missense mutation denotes amino acid substitution of the proline residue for arginine residue at position 145 of apo E. This variant (apo E Sendai) may cause a marked molecular conformational change of the apo E. These findings suggest that a novel variant is etiologically related to LPG.
authors.affiliation: First Department of Internal Medicine, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Oikawa
authors.forename: A
authors.initials: A
authors.lastname: Matsunaga
authors.forename: T
authors.initials: T
authors.lastname: Saito
authors.forename: H
authors.initials: H
authors.lastname: Sato
authors.forename: T
authors.initials: T
authors.lastname: Seki
authors.forename: K
authors.initials: K
authors.lastname: Hoshi
authors.forename: K
authors.initials: K
authors.lastname: Hayasaka
authors.forename: H
authors.initials: H
authors.lastname: Kotake
authors.forename: H
authors.initials: H
authors.lastname: Midorikawa
authors.forename: A
authors.initials: A
authors.lastname: Sekikawa
authors.forename: S
authors.initials: S
authors.lastname: Hara
authors.forename: K
authors.initials: K
authors.lastname: Abe
authors.forename: T
authors.initials: T
authors.lastname: Toyota
authors.forename: H
authors.initials: H
authors.lastname: Jingami
authors.forename: H
authors.initials: H
authors.lastname: Nakamura
authors.forename: J
authors.initials: J
authors.lastname: Sasaki
mesh_terms: D000368:Aged; D000483:Alleles; D001057:Apolipoproteins E / Q000235:genetics* / Q000378:metabolism; D001483:Base Sequence; D004247:DNA / Q000235:genetics; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007674:Kidney Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D007678:Kidney Glomerulus / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype
chemical_list: D001057:Apolipoproteins E; D004247:DNA