Fibroblast growth factor-23 in patients with homozygous familial hypercholesterolemia

Jarrod M Zamparini1, Andrew R Immelman2, Frederick J Raal2

  • 1Department of Medicine, Faculty of Health Sciences, University of the Witwatersrand, Parktown, South Africa.

Insights

Fibroblast growth factor-23 (FGF23) is not elevated in patients with homozygous familial hypercholesterolemia (HoFH) and does not correlate with cardiovascular disease. FGF23 does not appear to be a major factor in arterial calcification in HoFH patients.

Area of Science:

  • Cardiovascular Medicine
  • Endocrinology
  • Nephrology

Background:

  • Homozygous familial hypercholesterolemia (HoFH) patients experience early-onset vascular calcification, with unclear etiology.
  • Vascular calcification in chronic kidney disease is linked to fibroblast growth factor-23 (FGF23).

Purpose of the Study:

  • To compare FGF23 levels in HoFH patients versus controls.
  • To investigate correlations between FGF23, lipid profiles, and carotid intima-media thickness in HoFH.

Main Methods:

  • Cross-sectional study of 30 HoFH patients and 30 matched controls.
  • Measured FGF23, lipids, calcium, phosphate, and assessed carotid artery calcification via ultrasound.

Main Results:

  • No significant difference in mean FGF23 levels between HoFH patients and controls (P = .4621).
  • FGF23 showed no correlation with low-density lipoprotein cholesterol, total cholesterol, or cardiovascular disease markers in HoFH patients.

Conclusions:

  • Serum FGF23 is not elevated in HoFH patients compared to controls.
  • FGF23 does not appear to be a primary driver of arterial calcification in HoFH.
Abstract

Related Concept Videos

Protein Families02:47

Protein Families

Protein families are groups of homologous proteins; that is, they have similarities in amino acid sequences and three-dimensional structures. Protein families usually occur because of gene duplication, where an additional copy of a gene is inserted into the genome of an organism.   Mutations that change the amino acids but still allow the protein to be properly synthesized, will lead to new protein family members.   If these new proteins contain similar amino acids in key...
17.2K
Protein Families02:47

Protein Families

4.5K
Gene Families01:57

Gene Families

Gene families consist of groups of genes proposed to have originated from a common ancestor. Typically these arise through events in which a gene or genes are mistakenly duplicated during cell division. Unlike their parent genes (which are subject to selection pressure to maintain function), these gene copies do not need to preserve their sequences and may evolve at a relatively faster rate.
Occasionally these regions can be adapted to take on new roles within the organism, becoming novel genes...
10.0K
Gene Families01:57

Gene Families

3.9K
Factors Affecting Protein-Drug Binding: Patient-Related Factors01:29

Factors Affecting Protein-Drug Binding: Patient-Related Factors

Protein-drug binding, a pivotal aspect of pharmacokinetics, is subject to considerable variability influenced by an array of patient-related factors. The intricate interplay of age, individual differences, and pathological conditions significantly impact the binding dynamics and subsequent pharmacological effects.
Age stands as a key determinant in protein-drug binding. Neonates, characterized by low albumin content, experience heightened concentrations of unbound drugs such as phenytoin and...
338
Role of Hematopoietic Growth Factors01:28

Role of Hematopoietic Growth Factors

Hematopoietic growth factors are molecules that regulate the differentiation rate of hematopoietic stem cells (HSCs). Erythropoietin (EPO), primarily produced by the kidneys, plays a crucial role in erythrocyte production. When oxygen levels in the blood are low, EPO is released into the bloodstream, reaching the bone marrow, where it stimulates HSCs to differentiate and mature into erythrocytes, which are vital for oxygen transport.
Thrombopoietin (TPO), mainly released by the liver,...
4.0K