ArticleJCI insight2018
Whole-exome sequencing uncovers oxidoreductases DHTKD1 and OGDHL as linkers between mitochondrial dysfunction and eosinophilic esophagitis.
Article in JCI insight, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
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Who cites it
38 citing papers in PubMed, 57 citations in OpenAlex.
- Interleukin-13 Promotes Accumulation of Esophageal Epithelial Mitochondria With Translational Implications for Eosinophilic Esophagitis.Cellular and molecular gastroenterology and hepatology · 2026Article
- Integrated transcriptomics and metabolomics reveal the effects of chronic alcohol consumption on periodontitis in rats.Frontiers in immunology · 2026Article
- Article
- Thiamine, gastrointestinal beriberi and acetylcholine signaling.Frontiers in nutrition · 2025Review
- Tissue-specific inducible IL-33 expression elicits features of eosinophilic esophagitis.The Journal of allergy and clinical immunology · 2024Article
- Advances in omics data for eosinophilic esophagitis: moving towards multi-omics analyses.Journal of gastroenterology · 2024Review
- Common and disparate clinical presentations and mechanisms in different eosinophilic gastrointestinal diseases.The Journal of allergy and clinical immunology · 2024Review
- Minimally Invasive Approaches to Diagnose and Monitor Eosinophilic GI Diseases.Current allergy and asthma reports · 2024Review
- Epithelial overexpression of IL-33 induces eosinophilic esophagitis dependent on IL-13.The Journal of allergy and clinical immunology · 2024Article
- An esophagus cell atlas reveals dynamic rewiring during active eosinophilic esophagitis and remission.Nature communications · 2024Article
- Research progress on the improvement of cardiovascular diseases through the autonomic nervous system regulation of the NLRP3 inflammasome pathway.Frontiers in cardiovascular medicine · 2024Review
- Review
- Genetic and Molecular Contributors in Eosinophilic Esophagitis.Current allergy and asthma reports · 2023Review
- Characterisation of key biomarkers in diabetic ulcers via systems bioinformatics.International wound journal · 2023Article
- Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.Genome biology · 2022Article
- Functional Versatility of the Human 2-Oxoadipate Dehydrogenase in the L-Lysine Degradation Pathway toward Its Non-Cognate Substrate 2-Oxopimelic Acid.International journal of molecular sciences · 2022Article
- Eosinophilic esophagitis an update in children.Acta bio-medica : Atenei Parmensis · 2022Article
- Increasing Inhibition of the Rat Brain 2-Oxoglutarate Dehydrogenase Decreases Glutathione Redox State, Elevating Anxiety and Perturbing Stress Adaptation.Pharmaceuticals (Basel, Switzerland) · 2022Article
- Eosinophilic gastrointestinal disorders in patients with inborn errors of immunity: Data from the USIDNET registry.Frontiers in immunology · 2022Article
- Delayed Impact of 2-Oxoadipate Dehydrogenase Inhibition on the Rat Brain Metabolism Is Linked to Protein Glutarylation.Frontiers in medicine · 2022Article
Corrections and comments
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Authors and funding
18 authors at 4 institutions in 1 country.
Funding
Abstract
Eosinophilic esophagitis (EoE) is an allergic inflammatory esophageal disorder with a complex underlying genetic etiology often associated with other comorbidities. Using whole-exome sequencing (WES) of 63 patients with EoE and 60 unaffected family members and family-based trio analysis, we sought to uncover rare coding variants. WES analysis identified 5 rare, damaging variants in dehydrogenase E1 and transketolase domain-containing 1 (DHTKD1). Rare variant burden analysis revealed an overabundance of putative, potentially damaging DHTKD1 mutations in EoE (P = 0.01). Interestingly, we also identified 7 variants in the DHTKD1 homolog oxoglutarate dehydrogenase-like (OGDHL). Using shRNA-transduced esophageal epithelial cells and/or patient fibroblasts, we further showed that disruption of normal DHTKD1 or OGDHL expression blunts mitochondrial function. Finally, we demonstrated that the loss of DHTKD1 expression increased ROS production and induced the expression of viperin, a gene previously shown to be involved in production of Th2 cytokines in T cells. Viperin had increased expression in esophageal biopsies of EoE patients compared with control individuals and was upregulated by IL-13 in esophageal epithelial cells. These data identify a series of rare genetic variants implicating DHTKD1 and OGDHL in the genetic etiology of EoE and underscore a potential pathogenic role for mitochondrial dysfunction in EoE.
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