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Thiol/Disulfide Balance in Patients with Familial Hypercholesterolemia

Özgür Şimşek1, Ayşe Çarlıoğlu1, Murat Alışık2

  • 1Internal Medicine Department, Erzurum Regional Education Research Hospital, Atatürk Mahallesi, Çat Yolu Cd., Palandöken, Yakutiye, Erzurum 25070, Turkey.

Cardiology Research and Practice
|July 17, 2018
PubMed

Insights

Familial hypercholesterolemia disrupts the natural antioxidant balance. Patients show lower thiol and higher disulfide levels, favoring disulfide, potentially causing endothelial damage.

Area of Science:

  • Biochemistry
  • Cardiovascular Medicine
  • Oxidative Stress Research

Background:

  • Familial hypercholesterolemia (FH) is a genetic disorder leading to high LDL cholesterol.
  • Endothelial dysfunction is a key complication in cardiovascular diseases like FH.
  • Thiol and disulfide molecules are crucial endogenous antioxidants involved in cellular redox balance.

Purpose of the Study:

  • To investigate the thiol/disulfide balance in patients with familial hypercholesterolemia.
  • To test the hypothesis that an altered thiol/disulfide homeostasis contributes to endothelial damage in FH.

Main Methods:

  • Assessed thiol/disulfide balance in 51 FH patients and 81 healthy controls.
  • Collected fasting blood samples, processed, and stored at -80°C for analysis.

Main Results:

  • Significantly lower thiol levels were observed in FH patients.
  • Significantly higher disulfide levels were found in FH patients compared to controls.
  • The thiol/disulfide balance was shifted towards disulfide in FH patients, irrespective of age, gender, or BMI.

Conclusions:

  • The thiol/disulfide balance is disrupted in familial hypercholesterolemia, favoring disulfide formation.
  • This imbalance may play a role in the endothelial damage associated with FH.
  • Further research is warranted to explore therapeutic strategies targeting redox balance in FH.
Abstract

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