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NIH Research Festival

September 23 – 25, 2024

Unraveling impacts of a Tgfbr2 mutation on endothelial cells through a murine iPSC-derived disease model

Authors

  • AH Slekar
  • B He
  • O Duverger
  • JS Lee

Abstract

Loeys-Dietz Syndrome (LDS) is a rare, autosomal dominant disorder caused by mutations along the TGF-beta signaling pathway which categorize the disease into one of six subtypes. LDS patients are impacted by severe dental, oral, craniofacial, and cardiovascular anomalies which greatly affect their health and quality of life. Significant increases in markers previously associated with aortic aneurysms have been recently discovered in endothelial cells (ECs) from a mouse model for LDS harboring a heterozygous mutation in the TGFBR2 gene (encodes TGF-β receptor 2). This was a novel finding regarding the cardiovascular phenotype in LDS because current literature focuses on vascular smooth muscle cells, not endothelial cells, as the primary disease contributor. To further investigate the mechanism of disease in ECs, murine induced pluripotent stem cells (miPSCs) from reprogrammed WT (Tgfbr2+/+), and LDS2 (Tgfbr2G357W/+) mouse embryonic fibroblasts were differentiated into ECs and analyzed throughout their seven-day differentiation and after EC enrichment via cell sorting (CD144+). Successful differentiation into endothelial-like cells was confirmed by the expression of CD144 and CD31 during RNA and protein analysis. Further molecular analysis is currently underway to investigate how the differentiation pathway and endothelial function is impacted by the disease.

Scientific Focus Area: Stem Cell Biology

This page was last updated on Tuesday, August 6, 2024

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Current Research Festival

  • 2025
  • 2024
    • General Schedule of Events
    • 2024 NIH Distinguished Scholars Program
    • Poster Sessions
    • Concurrent Workshops
    • NIH Resource Information Fair
    • National Academy of Science Mini-Symposium
    • Special Wednesday Events
    • Vendor Exhibit Information
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    • Research Festival Committee
  • 2023
    • General Schedule of Events
    • NIH Early–Career Investigator Lectures
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    • Vendor Exhibit Information
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  • 2021
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    • General Schedule of Events
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    • Poster Session
    • Data Blitz
    • FARE Award Ceremony
    • Special Exhibits on Resources for Intramural Research
    • Technical Sales Association (TSA) Research Festival Exhibit Tent Show
    • Research Festival Committee
  • 2018
    • General Schedule of Events
    • Plenary Sessions
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