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Stimulation of Cytoplasmic DNA Sensing Pathways In Vitro and In Vivo
Published on: September 18, 2014
Immune response to DNA and RNA: structural insights, molecular mechanisms, and therapeutic targeting
Lintao Xia1, Yixi Wang2, Xiuli Yan3
1Institute of Interdisciplinary Integrative Medicine Research, Shanghai University of Traditional Chinese Medicine, Shanghai, China.
Abstract:
The recognition of mislocalized DNA and RNA by cGAS-STING, RIG-I/MDA5, the OAS-RNase L axis, and endosomal TLR3/7/8 has emerged as a unifying paradigm linking cancer, autoinflammation, and antiviral immunity. Counterbalancing these sensors is a structurally heterogeneous nuclease repertoire whose distinct substrate specificities, subcellular compartments and pH optima constrain ligand availability in space and time. Disruption of this equilibrium drives disease through two mirror-image mechanisms. In cancer, DNASE1 is inactivated by tumor-derived G-actin, DNASE1L3 is transcriptionally silenced in hepatocellular, colorectal and lung adenocarcinomas, and DNASE2 is upregulated in immunologically "cold" tumors, together permitting neutrophil-extracellular-trap-mediated exclusion of cytotoxic T cells and suppression of cytosolic DNA sensing. In autoimmunity, biallelic loss of DNASE1L3, TREX1, RNase H2, ADAR1 or RNase T2 produces the interferonopathies of systemic lupus and Aicardi-Goutières syndrome. Diagnostically, nuclease-specific cleavage signatures have matured into cell-free DNA fragmentomics validated across 13 cancer types in a 3,021-patient cohort; therapeutically, the field now spans engineered actin-resistant DNASE1/DNASE1L3 biologics, selective TREX1 and ADAR1 inhibitors entering first-in-human evaluation, STING-activating nanomedicines, RNase Fc-fusions such as RSLV-132 in phase 2a lupus, and JAK1/2 inhibition as standard of care in Aicardi-Goutières syndrome. We synthesize this evidence as a two-fate problem: whether an endogenous nucleic acid accumulates at these sensors to drive autoinflammation or is cleared by nucleases before detection is set by the balance between sensor engagement and clearance capacity. The therapeutic corollary acts on the ligand rather than the enzyme, restoring ligand availability where disease is malignant and restoring clearance where disease is self-directed.
Insights
Mislocalized DNA and RNA trigger immune sensors, causing cancer or autoinflammation. Nucleases normally clear these nucleic acids, but their dysfunction leads to disease. Therapies aim to restore balance by targeting nucleic acid availability or clearance.
Area of Science:
- Innate immunity
- Molecular biology
- Genetics
Background:
- Mislocalized DNA and RNA are recognized by sensors like cGAS-STING, RIG-I/MDA5, OAS-RNase L, and TLRs, linking cancer, autoinflammation, and antiviral immunity.
- A diverse nuclease repertoire counterbalances these sensors, with specificities and locations controlling nucleic acid availability.
- Imbalances in this system drive disease through distinct mechanisms in cancer and autoimmunity.
Purpose of the Study:
- To synthesize evidence on the dual role of nucleases in health and disease.
- To explore the mechanisms by which nuclease dysfunction contributes to cancer and autoinflammatory conditions.
- To review current and emerging therapeutic strategies targeting the nucleic acid sensing and clearance pathways.
Main Methods:
- Review of scientific literature on nucleic acid sensing pathways and nuclease function.
- Analysis of disease mechanisms in cancer (e.g., DNASE1, DNASE1L3, DNASE2 dysfunction) and autoimmunity (e.g., DNASE1L3, TREX1, RNase H2, ADAR1, RNase T2 loss).
- Examination of diagnostic approaches like cell-free DNA fragmentomics and therapeutic interventions.
Main Results:
- In cancer, nuclease inactivation allows nucleic acid accumulation, promoting immune evasion and "cold" tumors.
- In autoimmunity, biallelic loss of specific nucleases leads to interferonopathies like lupus and Aicardi-Goutières syndrome.
- Cell-free DNA fragmentomics show diagnostic potential, while therapies include engineered nucleases, inhibitors, nanomedicines, and JAK inhibitors.
Conclusions:
- The balance between nucleic acid sensor engagement and nuclease clearance capacity determines disease outcome.
- Therapeutic strategies focus on modulating ligand availability or enhancing clearance.
- Restoring nuclease function or controlling nucleic acid levels offers a promising therapeutic avenue for both cancer and autoinflammatory diseases.
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