Abstract
Transforming growth factor β1 (TGF- β1) is a cytokine that participates in a broad range of cellular regulatory processes and is associated with various diseases including aortic aneurysm. Increased TGF- β1 levels are associated with Marfan syndrome (MFS) caused by FBN1 mutations and subsequent defects in signaling system. We studied TGF- β1 levels in 62 patients with sporadic, non syndromic, dilatative pathology of ascending aorta (DPAA) and in reference group subjects (n = 212). An initial screening of 212 reference individuals identified TGF- β1 gender discrepancies and age-dependent cytokine increase in women. Patients with DPAA had increased levels of TGF- β1 in comparison to reference group subjects (median 7.7 ng/ml, range 2.1–25.3, and median 6.2 ng/ml, range 1.0–33.1, respectively). There is a significant association between TGF-β1 concentration and DPAA (OR 1.084, CI 1.027–1.144, p = 0.004) but the mechanisms of cause and effect have not been established yet. Slightly increased TGF-β1 concentrations in patients with sporadic DPAA in comparison to the reference subjects show a potential use of TGF-β1 as a biomarker for the disease. However, cytokine dependence on age, gender, and other unknown factors among individuals with no cardiovascular complains reduces its specificity for DPAA. We would also like to raise awareness regarding the choice of methods when measuring TGF-β1 levels with an emphasis on preanalytical phase and the choice of sample.
Highlights
Marfan syndrome (MFS) is caused by mutations in the fibrillin-1 encoding gene FBN1
For the first time we reported irregularity of transforming growth factor –β1 (TGF-β1) concentration in blood plasma caused by age and gender in subjects from the reference group
The latter phenomenon might be attributed to TGF-β1 signaling system activation by follicle-stimulating hormone (FSH) [9, 10]
Summary
Marfan syndrome (MFS) is caused by mutations in the fibrillin-1 encoding gene FBN1. It has been discovered that fibrillin-1 regulates the bioavailability of transforming growth factor –β1 (TGF-β1) [1]. The latter is a member of TGF- β pluripotent cytokine family involved in tissue morphogenesis and homeostasis [2]. An altered TGF-β signaling contributes significantly to the pathology of MFS [1]. In humans, circulating total TGF- β1 concentrations are elevated in patients with MFS in comparison to control individuals; in addition, correlation.
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