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Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model
Published on: September 4, 2017
Plasma biomarkers in patients with familial cavernous malformation and their first-degree relatives: a
Chunwang Li1,2, Shuna Huang3, Qixuan Li1,2
1Department of Neurosurgery, Neurosurgery Research Institute, The First Affiliated Hospital, Fujian Medical University, Fuzhou, 350005, Fujian, China.
Insights
Low plasma CD31 and BDNF levels are associated with familial cerebral cavernous malformation (FCCM). Low Serpin E1/PAI-1 and high ROBO4 levels indicate severe disease aggressiveness in FCCM patients.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Familial cerebral cavernous malformation (FCCM) presents a significant health burden.
- Identifying reliable biomarkers is crucial for early diagnosis and risk stratification.
Purpose of the Study:
- To investigate plasma biomarker differences between FCCM patients and healthy relatives.
- To identify biomarkers associated with severe disease aggressiveness in FCCM.
Main Methods:
- Cross-sectional study involving MRI and genetic testing.
- Plasma levels of 67 biomarkers analyzed using multiplex bead immunoassay.
- Logistic regression and ROC curve analyses performed.
Main Results:
- Low CD31 and BDNF levels identified as independent risk factors for FCCM.
- A combined model of CD31 and BDNF accurately distinguished FCCM patients (AUC=0.845).
- Low Serpin E1/PAI-1 and high ROBO4 levels correlated with severe disease aggressiveness in FCCM (AUC=0.913).
Conclusions:
- Plasma CD31 and BDNF may serve as diagnostic biomarkers for FCCM.
- Serpin E1/PAI-1 and ROBO4 levels are potential indicators of FCCM disease severity and bleeding risk.
Abstract:
Familial cerebral cavernous malformation (FCCM), especially severe cases, impose a heavy physical and psychological burden on patients and their families. To explore the differences in plasma biomarker levels between patients with FCCM and their healthy first-degree relatives (FDRs) and between FCCM patients with and without severe chronic disease aggressiveness (CDA). In a cross - sectional study, magnetic resonance imaging (MRI) scanning and genetic testing were performed in patients with multiple CCMs and their FDRs. Subsequently, sixty-seven plasma biomarkers were tested using a customised multiplex bead immunoassay kit. Univariate and multivariate unconditional logistic regression analyses were conducted to determine the associations between plasma factors and the risk of developing FCCM and severe CDA. Receiver operating characteristic (ROC) curves were generated for each independent risk factor. As a result, plasma factors of 37 patients with FCCM and 37 FDRs were examined. Low CD31 (P < 0.001) and BDNF levels (P = 0.013) were independent risk factors for FCCM. The best model was achieved by combining the results of CD31 and BDNF (AUC = 0.845, sensitivity 0.838, specificity 0.784, cutoff score - 4.295) to distinguish patients with FCCM from healthy FDRs. Low Serpin E1/PAI-1 (P = 0.011) and high ROBO4 levels (P = 0.013) were independent risk factors for severe CDA in patients with FCCM. The best model was achieved by combining the results of Serpin E1/PAI-1 and ROBO4 levels (AUC = 0.913, sensitivity 1.000, specificity 0.760, cutoff score - 0.525) to identify patients with FCCM and severe CDA. In summary, the plasma concentrations of CD31 and BDNF seem to be lower in patients with FCCM than in their healthy FDRs. Low Serpin E1/PAI-1 and high ROBO4 concentrations may be correlated with high lesion burden and risk of recurrent bleeding.Trial registration: ClinicalTrials.gov Identifier: NCT03467295.
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