Rare Variant of Apolipoprotein E (Arg136→Ser) in Two Normolipidemic Individuals

Title:

Rare Variant of Apolipoprotein E (Arg136→Ser) in Two Normolipidemic Individuals

Creator:

Hubáček, J.A., Adámková, V., and Škodová, Z.

Identifier:

https://cdk.lib.cas.cz/client/handle/uuid:435becb0-dc3f-48c0-bfdb-813f201fb4e3
uuid:435becb0-dc3f-48c0-bfdb-813f201fb4e3

Subject:

Apolipoprotein E, Rare mutation, and Lipid metabolism

Type:

article, model:article, and TEXT

Description:

Through the analysis of the common apolipoprotein (apo) E gene polymorphism in large Caucasian population study with the PCR and subsequent restriction analysis, we have identified carriers of mutant allele Arg136→Ser. Both of them (71-years-old female and her 43-years-old son) have normal lipid parameters. We suggest that Arg136→Ser mutation in apoE is not necessarily connected with elevated lipid levels in all cases. Furthermore, so far unidentified factors (environmental and/or genetic) are important for the development of lipid metabolism disorders in apoE Arg136→Ser mutation carriers.

Language:

English

Rights:

http://creativecommons.org/licenses/by-nc-sa/4.0/
policy:public

Source:

Physiological research | 2005 Volume:54 | Number:5

Harvested from:

CDK

Metadata only:

false