Background.

PubMed. Lalazar A, Weisgraber KH, Rall SC Jr, Giladi H, Innerarity TL, Levanon AZ, Boyles JK, Amit B, Gorecki M, Mahley RW. Abstract. Several apolipoprotein E (apoE) mutations have been reported to be related to LPG. A novel mutation in the apolipoprotein E gene (APOE*4 Pittsburgh) is associated with the risk of late-onset Alzheimer's disease. Gene Structure.

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1 Citations. Herein, we report a case of a LPG patient with a novel apoE mutation. Apolipoprotein E mutations can be found throughout the world. J Clin Invest. In Germany allel frequencies are: wildtype E3 80%, E2 and E4 10%.There some more rare mutation affecting the ligand region of the gene have been found. A novel apolipoprotein E mutation (p.Arg150Cys) in a Chinese patient with lipoprotein glomerulopathy. The mRNA of APOE is translated to a protein of 317 amino acids and the mature protein loses its signal peptide of the first 18 amino acids (Marais, 2019). . More than 10 different causative apoE mutations associated with lipoprotein glomerulopathy (LPG) have been reported. doi: 10.1097/CM9.0000000000000050. 1987 Aug;80(2):483-90.

There is no evidence abaut correlation of these mutations to Alzheimer's disease. Weiji Xie 1 na1, Yi Xie 1 na1, Zhijun Lin 1, Xiaochang Xu 2 & Yimin Zhang 2 Diagnostic Pathology volume 14, Article number: 41 (2019) Cite this article. Apolipoprotein E (ApoE) serves as a ligand for the low-density lipoprotein (LDL) receptor and cell surface receptors of the LDL receptor gene family. These mutation have importance in lipid disorders. Metrics details. A novel apolipoprotein E mutation caused by a five amino acid deletion in a Chinese family with lipoprotein glomerulopathy: a case report. Most LPG patients had mutations in APOE (apolipoprotein E, MIM* 107741), except for one reported by Zhang et al. Chin Med J 2019;00–00. ... New variant of human apolipoprotein E in a patient with type III hyperlipoproteinemia.

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