Aortic smooth muscle cell phenotype modulation during Marfan syndrome aneurysm formation

We report dynamic temporal and spatial smooth muscle cell phenotype modulation using aortic single cell RNA sequencing in a murine model of Marfan syndrome (Fbn1C1041G/+) and littermate controls. Aortic root/ascending aortic tissue samples from both genotypes were studied at 4 and 24 weeks of age. The non-aneurysmal descending thoracic aorta was also studied at 24 weeks. Finally human aortic tissue from a Marfan syndrome patient undergoing aneurysm repair surgery was studied. Overall design: 4 weeks mouse samples: aortic root/ascending aorta tissue from n=3 animals of each genotype (Fbn1C1041G/+ and littermate control) were pooled and digested into single cell pools for downstream analysis. For 24-week-old mice, 3 aortic root/asending aorta samples frmo control mice were similarly pooled. Separate pairs of Fbn1C1041G/+ mice were used to study sex differences, (total n=4 across two samples). Descending thoracic aortas from 24-week-old mice (n=3 control n=3 Fbn1C1041G/+) were pooled and processed as separate libraries. Separately, human aortic root tissue from a young patient with Marfan syndrome undergoing elective repair was digested and processed for single cell RNA sequencing.