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Mutations within the programmed cell death 10 gene cause cerebral cavernous malformations.
F Bergametti1, C Denier, P Labauge
1INSERM E365, Faculté de Médecine Lariboisiere, Hôpital Lariboisière, Assistance Publique-Hôpitaux de Paris, 10 avenue de Verdun, 75010 Paris, France.
American Journal of Human Genetics
|November 16, 2004
Summary
Researchers identified PDCD10 as the CCM3 gene responsible for cerebral cavernous malformations (CCMs). This discovery advances understanding of vascular development and CCM disease mechanisms.
Area of Science:
- Genetics
- Molecular Biology
- Neurology
Background:
- Cerebral cavernous malformations (CCMs) are vascular abnormalities causing seizures and hemorrhages.
- Previous research identified KRIT1 (CCM1) and MGC4607 (CCM2) gene mutations in CCMs.
Purpose of the Study:
- To identify the gene responsible for the CCM3 locus.
- To investigate the role of PDCD10 in cerebral cavernous malformations.
Main Methods:
- High-density microsatellite genotyping of 20 families.
- Deleterious mutation screening within the PDCD10 gene.
- Analysis of gene deletions and cosegregation with the disease.
Main Results:
- PDCD10 was identified as the CCM3 gene.
- Genomic deletions and various mutations (nonsense, splicing) in PDCD10 were found in CCM patients.
- Identified a 970-kb region containing the CCM3 gene.
Conclusions:
- PDCD10 mutations are causative for cerebral cavernous malformations.
- PDCD10 plays a critical role in vascular morphogenesis and remodeling.
- This finding provides new insights into CCM pathogenesis.