The aim of the present study is to characterise the phenotype of fibroblasts and to classify different mechanisms involved in the onset and progression of TAAD in syndromic and non-syndromic subjects in order to evaluate potential markers related to TAAD.
The aim of the study is to analyse cutaneous fibroblast properties in patients with thoracic aortic aneurysms (both syndromic and non-syndromic) to identify differences in molecular mechanisms in collagen turnover pathways compared to healthy controls in the general population.
Study Type
OBSERVATIONAL
Enrollment
15
Cardiovascular Genetic Centre IRCCS Policlinico San Donato
San Donato Milanese, Milan, Italy
Fibroblasts phenotype: cell morphology and migration
cell morphology: phase-contrast microscopy
Time frame: 12 months
Fibroblasts phenotype: cell morphology and migration
Cell migration: wound healing assay (scratch test).
Time frame: 12 months
Expression of genes and proteins involved in collagen turnover and extracellular matrix remodeling pathways
mRNA extraction and real-time PCR to assess the expression of genes involved in collagen turnover;
Time frame: 16 months
Expression of genes and proteins involved in collagen turnover and extracellular matrix remodeling pathways
Slot blot to assess ECM proteins and degrading proteases.
Time frame: 16 months
Levels of metalloproteinases involved in ECM degradation
SDS-zymography
Time frame: 24 months
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