Department Molecular Genetics
Principal investigator Ingrid van der Pluijm
E-mail address i.vanderpluijm@erasmusmc.nl
Website www.erasmusmc.nl/en/research/researchers/pluijm-ingrid-van-der
Effect of the immune system on (abdominal) aneurysm formation
Suitable as a BEP? Yes
Suitable as a MEP? Yes
Suitable as an Academic Research Project? No
Techniques:
- Single cell sequencing analysis
- Tissue processing
- Immunohistochemistry
- Immune cell sorting
- Western blotting
- Cell culture
Aortic aneurysms (AAs) are life-threatening dilations of the aorta, influenced by both genetic and environmental factors. While thoracic AAs are typically modeled through genetic manipulation, abdominal AAs often require chemical induction, underscoring a lack of models that recapitulate genetically driven abdominal AAs observed in human disease. Fibulin-4R/R mice develop congenital aneurysms in the ascending aorta and aortic arch, but at additional locations if bred in a different genetic background. This model provides a valuable platform to study the impact of genetic background on aortic disease progression, and the accompanying immunological differences and could provide insights into genetic susceptibility and potential personalized therapeutic approaches.
Further reading (click to link to article)
https://pubmed.ncbi.nlm.nih.gov/38902222/
https://pubmed.ncbi.nlm.nih.gov/29931197/
Genotype-phenotype relationship of ACTA2 variants in aneurysm formation
Suitable as a BEP? Yes
Suitable as a MEP? Yes
Suitable as an Academic Research Project? No
Techniques:
- Cell culture
- Transdifferentiation
- Immunofluorescence
- Western blotting
- Protein modelling (computer)
Aortic aneurysms (AAs) are life-threatening dilations of the aorta, which can have detrimental consequences if not repaired in time. Heterozygous pathogenic/likely pathogenic (P/LP) variants in the ACTA2 gene predispose for thoracic aortic aneurysms and dissections (TAAD). Besides P/LP variants, variants of unknown significance (VUSs) in ACTA2 are described, causing an uncertain genetic diagnosis. A correct genetic diagnosis in TAAD patients is critical to provide sufficient management and surveillance. This study aims to provide insight in the molecular phenotype of P/LP ACTA2 variants to be able to better interpret ACTA2 VUSs.
Further reading (click to link to article)
https://pubmed.ncbi.nlm.nih.gov/36053285/
https://pubmed.ncbi.nlm.nih.gov/34244757/