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Induction and Micro-CT Imaging of Cerebral Cavernous Malformations in Mouse Model
Published on: September 4, 2017
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Circulating biomarkers in familial cerebral cavernous malformation
Francesca Lazzaroni1, Jennifer M T A Meessen2, Ying Sun3
1Vascular Biology Unit, IFOM ETS-The AIRC Institute of Molecular Oncology, Milan, Italy; Hematology Department, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Ebiomedicine
|December 19, 2023
Summary
This study identified plasma protein biomarkers to predict Cerebral Cavernous Malformation (CCM) progression. These biomarkers may offer insights into disease mechanisms and potential therapeutic strategies for CCM.
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Background:
- Cerebral Cavernous Malformation (CCM) is a rare cerebrovascular disorder.
- Familial CCM (fCCM) results from mutations in KRIT1, CCM2, or PDCD10.
- CCM can lead to intracerebral hemorrhages, seizures, or focal neurological deficits.
Purpose of the Study:
- To identify plasma protein biomarkers for assessing fCCM severity.
- To predict the progression of fCCM.
- To explore potential therapeutic targets for CCM disease.
Main Methods:
- Analyzed plasma samples from 71 fCCM patients and 17 healthy donors.
- Utilized multiplexed protein profiling techniques.
- Validated marker relevance using a zebrafish pre-clinical model.
Main Results:
- Identified significant differences in sCD14, LBP, CXCL4, ICAM-1, ANG2, CCL5, THBS1, CRP, and HDL between fCCM patients and healthy donors.
- Found correlations between sENG, THBS1, CXCL4, and CCM genotype.
- Discovered that sROBO4, TM, and CRP predict adverse clinical events, while GDF-15, FLT3L, CXCL9, FGF-21, and CDCP1 predict new lesion formation.
Conclusions:
- A set of biochemical parameters can predict CCM progression.
- These findings suggest biological interpretations and potential therapeutic approaches for CCM.
- The identified biomarkers offer a basis for further research and clinical application.

