Thiol/Disulfide Balance in Patients with Familial Hypercholesterolemia

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.