Related Experiment Video
Updated: Aug 18, 2025

Comprehensive Endovascular and Open Surgical Management of Cerebral Arteriovenous Malformations
Published on: October 20, 2017
Somatic Variants in SVIL in Cerebral Aneurysms.
Pui Man Rosalind Lai1, Jee-Yeon Ryu1, Sang-Cheol Park1
1Department of Neurosurgery (P.M.R.L., J.-Y.R., S.-C.P., S.D., M.A.A.-S., G.R.C., K.U.F., N.J.P., R.D.), Brigham and Women's Hospital, Harvard Medical School, Boston, MA; Artificial Intelligence and Robotics Laboratory (S.-C.P.), Myongji Hospital, Goyang, Korea; Department of Neurosurgery (B.A.G.), University of Pittsburgh, PA; Department of Neurosurgery (L.D.D., E.E.Z.), Sutter Health, Danville, CA; Department of Neurosurgery (A.S.B.), Albany Medical Center, NY; Department of Neurosurgery (D.L.B.), Emory University, Atlanta, GA; Department of Neurosurgery (H.H.B., B.G.W.), University of Texas Southwestern, Dallas, TX; Department of Neurosurgery (S.B., P.R.C., A.L.D.), University of Texas Health Science Center, Houston; Department of Neurosurgery (E.F.C.), University of California San Francisco, CA; Department of Neurosurgery (G.P.C., A.C.W.), University of California Los Angeles; Department of Neurosurgery (C.A.D.), Lahey Hospital and Medical Center, Burlington, MA; Department of Neurosurgery (M.N.), Helsinki University and Helsinki University Hospital, Finland; Department of Neurosurgery (S.G.O.), University of Colorado, Denver; Department of Neurosurgery (X.S.), Affiliated Fuxing Hospital, Capital Medical University, Beijing, China; Department of Neurosurgery (E.P.V.-G.), Ochsner Medical Center, New Orleans, LA; and Channing Division of Network Medicine (S.T.W., R.D.), Brigham and Women's Hospital, Harvard Medical School, Boston, MA.
Somatic variants in the SVIL gene may cause cerebral aneurysms by altering vascular smooth muscle cells. This discovery offers new therapeutic targets for aneurysm prevention and treatment.
Area of Science:
- Genetics
- Vascular Biology
- Genomic Medicine
Background:
- Somatic mutations are key in cancer but their role in complex traits like cerebral aneurysms is unclear.
- Investigating somatic variants in aneurysm tissues is crucial for understanding disease mechanisms.
Purpose of the Study:
- To identify somatic variants contributing to saccular cerebral aneurysm formation.
- To elucidate the functional role of identified variants in aneurysm pathogenesis.
Main Methods:
- Whole-exome sequencing of aneurysm tissues and peripheral blood.
- RNA sequencing and CRISPR/Cas9 for functional validation.
- Analysis of gene expression and protein phosphorylation in vascular smooth muscle cells.
Main Results:
- Somatic variants in the supervillin (SVIL) gene were found in 17% of aneurysm tissues.
- SVIL expression was downregulated in aneurysm tissues with SVIL mutations.
- SVIL regulates vascular smooth muscle cell phenotype and migration via specific signaling pathways (KLF4, PDGF, RhoA/ROCK).
Conclusions:
- Somatic variants, particularly in SVIL, represent a novel mechanism in cerebral aneurysm development.
- SVIL-mediated modulation of vascular smooth muscle cells increases aneurysm susceptibility.
- This finding opens new therapeutic avenues for cerebral aneurysm intervention and prevention.
More Related Videos
Related Concept Videos
Aneurysm II: Clinical Manifestations and Diagnostic Studies
Comparing Copy Number Variations and SNPs
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Aneurysm I: Introduction
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Venous Thrombosis II: Clinical Manifestations and Diagnostic Studies
Sutures of the Skull
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...

