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Updated: May 14, 2026
Molecular Analysis of Endothelial-mesenchymal Transition Induced by Transforming Growth Factor-β Signaling
Published on: August 3, 2018
Circulating transforming growth factor β-1 level in Japanese patients with Marfan syndrome
Naomi Ogawa1, Yasushi Imai, Hiroshi Nishimura
1Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Abstract:
Marfan syndrome (MFS) is an inherited connective tissue disorder mainly caused by the fibrillin-1 mutation. Deficient fibrillin-1 is thought to result in the failed sequestration of transforming growth factor β (TGFβ) and subsequent activation of the TGFβ signaling pathway, suggesting that the circulating TGFβ level may be elevated in MFS, although its accurate measurement is complex due to ex vivo release from platelet stores upon platelet activation. We measured the plasma TGFβ1 levels of 32 Japanese MFS patients (22 medically untreated, 10 treated, 20 males, 30.1 ± 9.6 years old) and 30 healthy volunteers (19 males, 29.5 ± 5.8 years old) by ruthenium-based electrochemiluminescence platform (ECL). PF4 was also measured by enzyme immunoassay (EIA) as a platelet degranulation marker. There was no significant difference in the mean plasma TGFβ1 level between the MFS group (1.31 ± 0.40 ng/mL) and controls (1.17 ± 0.33 ng/mL) (P = 0.16, NS). Also, there was no significant difference between the untreated (1.24 ± 0.37 ng/mL) and treated (1.46 ± 0.45 ng/mL) MFS patients (P = 0.15, NS). We also measured PF4, which showed wide deviations but no significant difference between the two groups (P = 0.50). A difference in circulating TGFβ1 levels between MFS patients and controls was not detected in this Japanese population. Circulating TGFβ1 is not a diagnostic and therapeutic marker for Japanese MFS patients, although our findings do not eliminate the possible association of TGFβ with the pathogenesis of MFS.
Insights
Plasma levels of transforming growth factor beta 1 (TGFβ1) were not significantly different in Japanese Marfan syndrome (MFS) patients compared to controls. This suggests circulating TGFβ1 is not a reliable diagnostic or therapeutic marker for MFS in this population.
Area of Science:
- Genetics and Molecular Biology
- Cardiovascular Research
- Rheumatology
Background:
- Marfan syndrome (MFS) is an inherited connective tissue disorder linked to fibrillin-1 mutations.
- Fibrillin-1 deficiency may lead to increased transforming growth factor beta (TGFβ) signaling.
- Elevated TGFβ levels are hypothesized in MFS, but measurement is complicated by platelet activation.
Purpose of the Study:
- To investigate plasma TGFβ1 levels in Japanese Marfan syndrome patients.
- To determine if circulating TGFβ1 can serve as a diagnostic or therapeutic marker for MFS.
Main Methods:
- Plasma TGFβ1 levels were measured using electrochemiluminescence in 32 Japanese MFS patients and 30 healthy controls.
- Platelet factor 4 (PF4) was measured by enzyme immunoassay as a marker of platelet degranulation.
- Statistical analysis was performed to compare TGFβ1 and PF4 levels between groups.
Main Results:
- No significant difference was found in mean plasma TGFβ1 levels between MFS patients (1.31 ± 0.40 ng/mL) and controls (1.17 ± 0.33 ng/mL).
- TGFβ1 levels did not differ significantly between untreated and treated MFS patients.
- No significant difference in PF4 levels was observed between MFS patients and controls.
Conclusions:
- Circulating TGFβ1 levels do not appear to be significantly elevated in this Japanese MFS population.
- TGFβ1 is unlikely to be a useful diagnostic or therapeutic marker for Marfan syndrome in Japanese individuals.
- Further research may be needed to fully elucidate the role of TGFβ in MFS pathogenesis.
