<scp>Aicardi–Goutières</scp> syndrome: A monogenic type I interferonopathy

Liu, Anran; Shi, Ying

doi:10.1111/sji.13314

Cited by 12 publications

(4 citation statements)

References 147 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…AGS is a leukodystrophy associated with mutations in key genetic factors implicated in nucleic acids metabolism at different levels. It is also classified as interferonopathy (Liu & Ying, 2023; Pulliero et al, 2011) and is a severe childhood autoinflammatory disease that has a genetic basis and severe clinical features (Crow & Manel, 2015). This disorder was first discovered and described in 1984 by the two neurologists from whom it is named, Jean Aicardi and Françoise Goutières.…”

Section: Epigenetics Alterations In Leukodystrophiesmentioning

confidence: 99%

Role of epigenetics and alterations in RNA metabolism in leukodystrophies

Rey,

Esposito,

Maghraby

et al. 2024

WIREs RNA

View full text Add to dashboard Cite

Leukodystrophies are a class of rare heterogeneous disorders which affect the white matter of the brain, ultimately leading to a disruption in brain development and a damaging effect on cognitive, motor and social‐communicative development. These disorders present a great clinical heterogeneity, along with a phenotypic overlap and this could be partially due to contributions from environmental stimuli. It is in this context that there is a great need to investigate what other factors may contribute to both disease insurgence and phenotypical heterogeneity, and novel evidence are raising the attention toward the study of epigenetics and transcription mechanisms that can influence the disease phenotype beyond genetics. Modulation in the epigenetics machinery including histone modifications, DNA methylation and non‐coding RNAs dysregulation, could be crucial players in the development of these disorders, and moreover an aberrant RNA maturation process has been linked to leukodystrophies. Here, we provide an overview of these mechanisms hoping to supply a closer step toward the analysis of leukodystrophies not only as genetically determined but also with an added level of complexity where epigenetic dysregulation is of key relevance.This article is categorized under: Regulatory RNAs/RNAi/Riboswitches > Regulatory RNA RNA in Disease and Development > RNA in Disease RNA in Disease and Development > RNA in Development

show abstract

Section: Epigenetics Alterations In Leukodystrophiesmentioning

confidence: 99%

Role of epigenetics and alterations in RNA metabolism in leukodystrophies

Rey,

Esposito,

Maghraby

et al. 2024

WIREs RNA

View full text Add to dashboard Cite

show abstract

“…STING activates downstream transcriptional activators, including IRF3 and NFKB, to activate antiviral inflammatory responses. Mutations in RNASEH2B , which occur frequently in CRPC, are associated with Aicardi–Goutieres syndrome, a hereditary inflammatory disease, and similar mutations occur in multiple cancers and have been correlated with inflammatory gene signatures, suggesting that these tumors may respond more readily to ICB [ 146 , 220 , 221 ]. STING agonists have been shown to improve ICB responses in preclinical CRPC models and have entered clinical use for a number of cancer types [ 222 , 223 , 224 ].…”

Section: Crosstalk Between the Immune System And The Ddr In Crpcmentioning

confidence: 99%

Exploiting the DNA Damage Response for Prostate Cancer Therapy

Stracker,

Osagie,

Escorcia

et al. 2023

Cancers

View full text Add to dashboard Cite

Prostate cancers that progress despite androgen deprivation develop into castration-resistant prostate cancer, a fatal disease with few treatment options. In this review, we discuss the current understanding of prostate cancer subtypes and alterations in the DNA damage response (DDR) that can predispose to the development of prostate cancer and affect its progression. We identify barriers to conventional treatments, such as radiotherapy, and discuss the development of new therapies, many of which target the DDR or take advantage of recurring genetic alterations in the DDR. We place this in the context of advances in understanding the genetic variation and immune landscape of CRPC that could help guide their use in future treatment strategies. Finally, we discuss several new and emerging agents that may advance the treatment of lethal disease, highlighting selected clinical trials.

show abstract

“…The monogenic type I interferonopathy Aicardi-Goutières syndrome ( 39 ) may present with an inflammatory cardiomyopathy ( 40 ); and type I IFNs have also been implicated in the pathogenesis of autoimmune congenital heart block ( 41 ). That being said, cardiac disease is not always a feature of interferonopathy.…”

Section: Introductionmentioning

confidence: 99%

Interferons and interferon-related pathways in heart disease

Tran,

Batchu,

Advani

2024

Front. Cardiovasc. Med.

View full text Add to dashboard Cite

Interferons (IFNs) and IFN-related pathways play key roles in the defence against microbial infection. However, these processes may also be activated during the pathogenesis of non-infectious diseases, where they may contribute to organ injury, or function in a compensatory manner. In this review, we explore the roles of IFNs and IFN-related pathways in heart disease. We consider the cardiac effects of type I IFNs and IFN-stimulated genes (ISGs); the emerging role of the cyclic GMP-AMP synthase (cGAS)-stimulator of interferon genes (STING) pathway; the seemingly paradoxical effects of the type II IFN, IFN-γ; and the varied actions of the interferon regulatory factor (IRF) family of transcription factors. Recombinant IFNs and small molecule inhibitors of mediators of IFN receptor signaling are already employed in the clinic for the treatment of some autoimmune diseases, infections, and cancers. There has also been renewed interest in IFNs and IFN-related pathways because of their involvement in SARS-CoV-2 infection, and because of the relatively recent emergence of cGAS-STING as a pattern recognition receptor-activated pathway. Whether these advances will ultimately result in improvements in the care of those experiencing heart disease remains to be determined.

show abstract

Aicardi–Goutières syndrome: A monogenic type I interferonopathy

Cited by 12 publications

References 147 publications

Role of epigenetics and alterations in RNA metabolism in leukodystrophies

Role of epigenetics and alterations in RNA metabolism in leukodystrophies

Exploiting the DNA Damage Response for Prostate Cancer Therapy

Interferons and interferon-related pathways in heart disease

Contact Info

Product

Resources

About