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Lipoprotein(a) is associated with DNA damage in patients with heterozygous familial hypercholesterolemia

Ewelina Woźniak1, Marlena Broncel2, Agnieszka Woźniak2

  • 1Laboratory of Tissue Immunopharmacology, Department of Internal Diseases and Clinical Pharmacology, Medical University of Lodz, Lodz, Poland. ewelina.wozniak@umed.lodz.pl.

Scientific Reports
|January 31, 2024
PubMed

Insights

Heterozygous familial hypercholesterolemia (HeFH) patients show increased DNA damage and oxidative stress. Elevated lipoprotein(a) levels significantly correlate with this damage, particularly in those with atherosclerotic cardiovascular disease (ASCVD).

Area of Science:

  • Cardiovascular Genetics
  • Oxidative Stress Research
  • Lipid Metabolism

Background:

  • Familial hypercholesterolemia (HeFH) is an inherited disorder increasing atherosclerotic cardiovascular disease (ASCVD) risk.
  • HeFH patients exhibit higher lipoprotein(a) (Lp(a)) concentrations and elevated low-density lipoprotein (LDL) levels from birth.
  • Oxidized LDL (ox-LDL) may trigger additional oxidative pathways in FH patients.

Purpose of the Study:

  • To quantify oxidative stress markers and DNA damage in HeFH patients.
  • To investigate the influence of Lp(a) on DNA damage in HeFH.
  • To identify Lp(a) thresholds associated with ASCVD in HeFH.

Main Methods:

  • Comparative analysis of DNA damage and oxidative stress markers between HeFH patients and normolipidemic controls.
  • Correlation analysis between Lp(a) levels, oxidative stress markers, and DNA damage.
  • Assessment of ASCVD presence and its association with measured biomarkers.

Main Results:

  • HeFH patients demonstrated significantly higher DNA damage compared to controls, with greater damage observed in those with ASCVD.
  • Elevated oxidative stress markers were noted in HeFH patients; ox-LDL was specifically higher in the ASCVD group and correlated with DNA damage.
  • A positive correlation existed between DNA damage and Lp(a) levels in HeFH patients, with higher Lp(a) linked to increased damage, especially in ASCVD cases.

Conclusions:

  • HeFH is associated with increased oxidative stress and DNA damage, exacerbated by the presence of ASCVD.
  • Lp(a) concentration is a key factor contributing to DNA damage in HeFH, particularly in ASCVD patients.
  • An Lp(a) level above 23.45 nmol/L may indicate ASCVD risk in HeFH patients, warranting further validation.

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