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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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HSPB7 Deficiency Drives Aortic Aneurysm Progression in Marfan Syndrome Through Vascular Smooth Muscle Cell Phenotypic

Zining An1, Tao Yan2, Yang Ming2

  • 1Department of Cardiovascular Surgery, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China.

Clinical and Experimental Pharmacology & Physiology
|May 27, 2026
PubMed

Insights

Marfan syndrome (Mfs) involves thoracic aortic aneurysm (TAA) linked to FBN1 mutations. This study reveals HSPB7

Area of Science:

  • Cardiovascular Biology
  • Genetics
  • Cell Biology

Background:

  • Marfan syndrome (Mfs), caused by FBN1 mutations, leads to thoracic aortic aneurysm (TAA) due to vascular smooth muscle cell (VSMC) dysfunction.
  • The specific role of heat shock protein beta 7 (HSPB7) in Mfs-associated TAA pathogenesis is not well understood.

Purpose of the Study:

  • To investigate the molecular mechanisms underlying Mfs-associated TAA using patient-derived cells.
  • To explore the function of HSPB7 in VSMC behavior within the context of Mfs-TAA.

Main Methods:

  • Integrated multi-omics analysis of induced pluripotent stem cell (hiPSC)-derived VSMCs from Mfs patients.
  • Analysis of intercellular communication, cellular proportions, and pathway alterations.
  • Investigating the effect of HSPB7 modulation (downregulation and overexpression) on VSMC phenotype.

Main Results:

  • Identified immune cell infiltration, reduced VSMC proportion, and altered intercellular communication in Mfs-TAA.
  • Observed dysregulation in cell adhesion, extracellular matrix (ECM) remodeling, immune signaling, and metabolic pathways.
  • Found that HSPB7 downregulation correlates with impaired VSMC proliferation, migration, and metabolism; HSPB7 overexpression ameliorated these pathological features.

Conclusions:

  • Mfs-TAA pathogenesis involves structural, immune, and metabolic imbalances.
  • HSPB7 plays a regulatory role in VSMC phenotypic modulation in Mfs-TAA.
  • Restoring HSPB7 levels may offer a therapeutic strategy for Mfs-TAA by improving VSMC function.
Keywords:
HSPB7Marfan syndromehiPSC‐derived modelsorgan‐on‐a‐chipsingle‐cell transcriptomicssmooth muscle cellsthoracic aortic aneurysm

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