[Multiple molecular-genetic defects in a woman with mixed hyperlipoproteinemia and early ischemic heart disease]

Ter Arkh. 2003;75(10):71-4.
[Article in Russian]

Abstract

Aim: Analysis of genes of apolipoprotein E (apoE), LDLP receptor and methylentetrahydrofolate reductase (MTHFR) in a female patient with mixed hyperlipoproteinemia (HLP) and early ischemic heart disease (IHD).

Material and methods: A patient with a mixed form of HLP and 5 her relatives were examined genetically. The genotype of apoE and MTHFR was determined using a restrictive analysis of PCR fragments. Conformation of one chain DNA was used to analyse gene of LDLP-receptor with following sequencing of anomalous DNA.

Results: The proband had changes in all examined genes: nucleotide replacement of A370T gene of LDLP receptor, nucleotide replacement of MTHFR gene C677T and epsilon 2/epsilon 2-genotype of apoE. None of the relatives carried more than one polymorphism by the studied genes.

Conclusion: Early IHD in females can be caused by combination of polymorphisms of genes associated with development of atherosclerosis.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Amino Acid Substitution / genetics
  • Apolipoproteins E / genetics
  • DNA / analysis
  • Female
  • Genetic Predisposition to Disease*
  • Genetic Testing
  • Genotype
  • Humans
  • Hyperlipoproteinemia Type III / genetics*
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics
  • Middle Aged
  • Myocardial Ischemia / genetics*
  • Polymorphism, Restriction Fragment Length
  • Receptors, LDL / genetics

Substances

  • Apolipoproteins E
  • Receptors, LDL
  • DNA
  • Methylenetetrahydrofolate Reductase (NADPH2)