Rare variant of apolipoprotein E (Arg136 -->Ser) in two normolipidemic individuals

Physiol Res. 2005;54(5):573-5. Epub 2005 Jan 10.

Abstract

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.

Publication types

  • Case Reports
  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Apolipoproteins E / genetics*
  • Czech Republic / epidemiology
  • DNA Mutational Analysis / methods
  • Dyslipidemias / epidemiology*
  • Dyslipidemias / metabolism*
  • Female
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Testing / methods
  • Genetic Variation / genetics
  • Humans
  • Incidence
  • Male
  • Polymorphism, Genetic
  • Rare Diseases / epidemiology
  • Rare Diseases / metabolism
  • Risk Assessment / methods*
  • Risk Factors

Substances

  • Apolipoproteins E