Epigenetic alterations on C1-inhibitor expression may influence hereditary angioedema attack frequency and C4 levels

Khan, Sujoy; Longhurst, Hilary

doi:10.1111/cei.13516

Cited by 4 publications

(2 citation statements)

References 9 publications

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“…This could be explained, at least in part, by the type of alterations in the SERPING1 gene and mutations in other genes encoding proteins that are part of the complement, fibrinolysis, coagulation, and kinin systems [ 99 ]. The involvement of epigenetic changes [ 118 ], viruses, and colonizing microorganisms [ 119 ], as well as environmental factors in the pathogenesis of HAE, has also been postulated [ 61 ]. As genotype-phenotype correlations in HAE have been reviewed in detail by Loli-Ausejo et al in the current issue, we only provide a few representative examples of studies with important implications for the discovery of prognostic biomarkers.…”

Section: Prognostic Applications Of Genetic Biomarkersmentioning

confidence: 99%

Biomarkers in Hereditary Angioedema

Porębski

Kwitniewski

Reshef

2021

Clinic Rev Allerg Immunol

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A biomarker is a defined characteristic measured as an indicator of normal, biologic, pathogenic processes, or biological responses to an exposure or intervention. Diagnostic biomarkers are used to detect a disease or a subtype of a disease; monitoring biomarkers are measured serially to assess a medical condition; response biomarkers are used to check biologic response following a medical intervention; predictive biomarkers are used to identify patients who are more likely to respond to a medical intervention; and prognostic biomarkers are used to assess the future likelihood of a clinical event. Although biomarkers have been extensively investigated and validated in many diseases and pathologies, very few are currently useful for the diagnosis, evaluation of disease activity, and treatment of hereditary angioedema (HAE). Pathophysiologic pathways involved in HAE reveal a plethora of molecules from the complement, coagulation, and fibrinolysis systems or from the vascular endothelium, which may serve as biomarkers. The most promising candidates, together with their laboratory readout systems, should be evaluated with regard to their analytical and clinical validity and utility. To be highly specific, such biomarkers should be linked to the pathomechanisms of HAE, particularly the bradykinin-generating cascade. Additionally, major advances in high-throughput omics-based technologies may facilitate the discovery of new candidate biomarkers in the future. This review will cover the existing as well as future potential biomarkers that will support the diagnosis, monitor disease activity, and can be used to assess the efficacy of new avenues of therapy of HAE and other forms of angioedema.

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Section: Prognostic Applications Of Genetic Biomarkersmentioning

confidence: 99%

Biomarkers in Hereditary Angioedema

Porębski

Kwitniewski

Reshef

2021

Clinic Rev Allerg Immunol

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“…Only patients carrying missense mutations leading to the change of a single amino acid exhibited a less severe clinical phenotype [ 20 ]. The involvement of epigenetic changes [ 21 ] and environmental factors (i.e., temperature, pH, and oxidative stress) in the pathogenesis of HAE, has also been postulated [ 16 ].…”

Section: Hereditary Angioedemamentioning

confidence: 99%

The Genetics of Hereditary Angioedema: A Review

Santacroce

D’Andrea

Maffione

et al. 2021

JCM

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Hereditary angioedema is a rare inherited disorder characterized by recurrent episodes of the accumulation of fluids outside of the blood vessels, causing rapid swelling of tissues in the hands, feet, limbs, face, intestinal tract, or airway. Mutations in SERPING1, the gene that encodes C1-INH (C1 esterase inhibitor), are responsible for the majority of cases of hereditary angioedema. C1 esterase inhibitor (C1-INH) is a major regulator of critical enzymes that are implicated in the cascades of bradykinin generation, which increases the vascular permeability and allows the flow of fluids into the extracellular space and results in angioedema. Moreover, a dominantly inherited disease has been described that has a similar clinical picture to C1-INH-HAE (Hereditary angioedema due to C1 inhibitor deficiency), but with normal C1-INH level and activity. This new type of HAE has no mutation in the SERPING1 gene and it is classified as nC1-INH-HAE (HAE with normal C1-INH). Currently mutations in six different genes have been identified as causing nC1-INH-HAE: factor XII (F12), plasminogen (PLG), angiopoietin 1 (ANGPT1), Kininogen 1 (KNG1), Myoferlin (MYOF), and heparan sulfate (HS)-glucosamine 3-O-sulfotransferase 6 (HS3ST6). In this review we aim to summarize the recent advances in genetic characterization of angioedema and possible future prospects in the identification of new genetic defects in HAE. We also provide an overview of diagnostic applications of genetic biomarkers using NGS technologies (Next Generation Sequencing).

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On the Complex Pathogenesis of Sjögren’s Syndrome: Genetics, Epigenetics, Toxins, Viruses, and Bacteria

Finzel

Voll

2022

Contemporary Rheumatology

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Epigenetic alterations on C1-inhibitor expression may influence hereditary angioedema attack frequency and C4 levels

Cited by 4 publications

References 9 publications

Biomarkers in Hereditary Angioedema

Biomarkers in Hereditary Angioedema

The Genetics of Hereditary Angioedema: A Review

On the Complex Pathogenesis of Sjögren’s Syndrome: Genetics, Epigenetics, Toxins, Viruses, and Bacteria

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