Novel genetic mutation in apolipoprotein E2 homozygosis and its implication in organ donation: a case report.

Abstract

Disorders in lipoprotein metabolism do not contraindicate liver procurement and transplantation (LT). In this circumstance, LT provides an intriguing opportunity to assess the in vivo contribution of the liver to the synthesis and degradation of genetically polymorphic plasma proteins. Apolipoprotein (APO) E exists with several common phenotypic differences due to gene polymorphism. Some authors have shown that the APOE phenotype of the recipient was virtually completely converted to that of the donor, providing evidence that >90% of plasma APOE arises from the liver. Homozygosis for APOE2 (E2-E2) is related to an increased incidence of type III hyperlipoproteinemia (HLP). Recently, some authors have identified 4 new APOE mutations that are strongly linked to a unique entity of renal lipidosis called lipoprotein glomerulopathy (LPG). At present, 65 cases of LPG have been reported worldwide, although most patients have been discovered in Japan and other East Asian countries. We have herein reported a case of LT in a patient with advanced hepatocarcinoma who received a liver from a caucasian donor affected by type III HLP due to homozygous E2-E2. The LPG was due to a novel genetic mutation in APOE. After the LT, the recipient, developed de novo severe lipid abnormalities despite good graft function. To our knowledge this is the first report of an LT using a graft from a non Asian donor with homozygous E2-E2 with the presence of a novel APOE mutation.

• Authors: N Cautero, F Di Benedetto, N De Ruvo, R Montalti, G P Guerrini, R Ballarin, M Spaggiari, N Smerieri, M G De Blasiis, G Rompianesi, R M Iemmolo, M Marino, M Bertolotti, S Zivieri, G E Gerunda
• Journal: Transplantation proceedings (Transplant Proc) Vol. 42 Issue 4 Pg. 1349-51 (May 2010) ISSN: 1873-2623 [Electronic] United States
• PMID: 20534298 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright (c) 2010. Published by Elsevier Inc.

Chemical References

• Apolipoprotein E2
• Arginine
• Cysteine

Topics

• Amino Acid Substitution
• Apolipoprotein E2 (genetics)
• Arginine (genetics)
• Cerebral Hemorrhage
• Cysteine (genetics)
• Female
• Heterozygote
• Homozygote
• Humans
• Liver Transplantation (physiology)
• Middle Aged
• Mutation
• Tissue Donors