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Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A.

Alice Lepelley1, Erika Della Mina1, Erika Van Nieuwenhove2,3,4

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Mutations in ATAD3A, a mitochondrial protein, trigger immune system activation through interferon signaling. This discovery identifies a new type of interferonopathy linked to mitochondrial dysfunction.

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Area of Science:

  • Immunology
  • Genetics
  • Cell Biology

Background:

  • Mitochondrial DNA (mtDNA) is implicated in immune activation.
  • Interferon signaling induction by mtDNA in Mendelian mitochondrial diseases remains unproven.
  • ATAD3A (ATPase family AAA domain-containing protein 3A) is a mitochondrial membrane protein.

Observation:

  • Two patients with neurological and systemic sclerosis-like phenotypes showed enhanced interferon-stimulated gene (ISG) expression.
  • These patients harbored de novo heterozygous mutations in ATAD3A.
  • Five additional patients with ATAD3A mutations exhibited up-regulated ISG expression and interferon α protein.

Findings:

  • Knockdown of ATAD3A in THP-1 cells increased interferon signaling via cGAS-STING pathways.
  • Enhanced interferon signaling was dependent on the presence of mtDNA.
  • ATAD3A mutations lead to a novel type I interferonopathy.

Implications:

  • This study establishes a direct link between mitochondrial dysfunction and type I interferonopathies.
  • ATAD3A mutations represent a new genetic cause for interferonopathies.
  • Understanding this mechanism could inform therapeutic strategies for related disorders.