Apolipoprotein E Sendai (arginine 145-->proline): a new variant associated with lipoprotein glomerulopathy.
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.
Oikawa
S
S
First Department of Internal Medicine, Tohoku University School of Medicine, Sendai, Japan.
Matsunaga
A
A
Saito
T
T
Sato
H
H
Seki
T
T
Hoshi
K
K
Hayasaka
K
K
Kotake
H
H
Midorikawa
H
H
Sekikawa
A
A
Hara
S
S
Abe
K
K
Toyota
T
T
Jingami
H
H
Nakamura
H
H
Sasaki
J
J
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
D001057:Apolipoproteins E; D004247:DNA