1. Common apolipoprotein E gene mutations contribute to lipoprotein glomerulopathy in China.
- Author
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Han J, Pan Y, Chen Y, Li X, Xing G, Shi J, Hou P, Zhang H, and Wang H
- Subjects
- Adult, Apolipoproteins E blood, China, Female, Genetic Carrier Screening methods, Glomerulonephritis blood, Humans, Lipoproteins adverse effects, Lipoproteins blood, Lipoproteins genetics, Male, Middle Aged, Pedigree, Apolipoproteins E genetics, Asian People genetics, Glomerulonephritis genetics, Glomerulonephritis pathology, Kidney Glomerulus pathology, Mutation genetics
- Abstract
Background: Lipoprotein glomerulopathy (LPG) is a unique disease characterized by thrombus-like lipoprotein deposition in glomeruli and an increased serum apolipoprotein E level (ApoE protein or APOE gene). Several APOE mutations contribute to the occurring of LPG., Methods: We confirmed LPG in 7 individuals by renal biopsy, and investigated families of 2 patients with urinalysis, serum creatinine and serum lipid examination. Exons of APOE of all individuals as well as their relatives were amplified and sequenced directly., Results: Two types of APOE mutations were identified in the 7 patients and their relatives. APOE Maebashi (Arg142-Leu144-->0) heterozygotes were found in 5 individuals who were from 4 different families. APOE Kyoto (Arg25-Cys) was confirmed heterogeneous in another 2 individuals. Both mutations present incomplete penetrance., Conclusion: Our research indicates that APOE Maebashi (Arg142-Leu144-->0) is a common mutation in Chinese LPG. However, not all carriers of the 2 mutations have LPG, although hyperlipidemia and high serum ApoE level are tested. There are likely other reasons, such as a local mechanism in the glomeruli, which participated in the renal injury., (Copyright 2010 S. Karger AG, Basel.)
- Published
- 2010
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