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Actin dynamics regulation by TTC7A/PI4KIIIα limits DNA damage and cell death under confinement.

Tania Gajardo1, Mathilde Bernard2, Marie Lô1

  • 1Molecular Basis of Altered Immune Homeostasis Laboratory, Institut National de la Santé et de la Recherche Médicale (INSERM) Unite Mixte de Recherche (UMR) 1163, Paris, France; Imagine Institute, Université de Paris Cité, Paris, France.

The Journal of Allergy and Clinical Immunology
|June 30, 2023
PubMed
Summary

TTC7A deficiency impairs lymphocyte migration and immune homeostasis by affecting actin cytoskeleton dynamics. This cellular dysfunction contributes to progressive immunodeficiency in patients.

Keywords:
TTC7Aactin dynamicscell migrationcell survival under confinementnuclear deformation

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Area of Science:

  • Immunology
  • Cell Biology
  • Biochemistry

Background:

  • The actin cytoskeleton is vital for immune homeostasis, regulating cell migration.
  • Mutations in TTC7A cause primary immunodeficiency with gut issues and altered actin dynamics.

Purpose of the Study:

  • Investigate TTC7A deficiency's impact on immune homeostasis.
  • Elucidate TTC7A's role in leukocyte migration and actin dynamics via the phosphatidylinositol 4-kinase type III alpha pathway.

Main Methods:

  • Utilized microfabricated devices to analyze single-cell migration and actin dynamics.
  • Studied murine and patient-derived leukocytes under confinement.

Main Results:

  • TTC7A-deficient lymphocytes showed altered migration and reduced deformability.
  • Deficiency impaired phosphoinositide signaling, downregulating the PI3K/AKT/RHOA axis, leading to imbalanced actin dynamics.
  • Impaired motility, DNA damage, and increased cell death were observed in TTC7A-deficient cells.

Conclusions:

  • TTC7A is a critical regulator of lymphocyte migration.
  • Impaired lymphocyte migration due to TTC7A deficiency contributes to progressive immunodeficiency pathophysiology.