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Genomic and Proteomic Analysis of Patients with Reoccurring Discrete Subaortic Stenosis

Birla, R.; Singampalli, K. L.; Nieuwsma, A.; Brimmer, S. A.; Kaul, A.; Wadhwa, L.; Jung, S. Y.; Mezquita, D.; Grimm, S. L.; Balaji, S.; Coarfa, C.; Caldarone, C. A.; Grande-Allen, K. J.; Keswani, S. G.

2023-01-23 molecular biology
10.1101/2023.01.22.525022 bioRxiv
Show abstract

Discrete subaortic stenosis (DSS) is a pediatric condition in which a fibrotic membrane forms within the left ventricular outflow track. The fibrotic membrane is removed surgically; however, there is a high rate of reoccurrence which requires a second surgery. There are currently no tools available to predict the risk of reoccurrence in DSS patients, a limitation addressed by this study. In this study, we analyzed resected fibrotic membranes for DSS patients at the time of first surgery for non-recurrent and recurrent patients, and at the time of second surgery for recurrent patients. RNA-sequencing was conducted to obtain a global screen of changes in RNA expression while mass spectrometry was used to obtain a global screen of changes in protein expression. The results from the RNA-sequencing and mass spectrometry provide valuable insight into genes and the proteins that are differentially regulated in recurrent vs non-recurrent DSS patients.

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