ArticleTraffic (Copenhagen, Denmark)2018
Reversible deficits in apical transporter trafficking associated with deficiency in diacylglycerol acyltransferase.
Article in Traffic (Copenhagen, Denmark), 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 24 citations in OpenAlex.
- Case Report: DGAT1 deficiency in three infants including a novel missense variant: structural insights and comparison with reported cases.Frontiers in pediatrics · 2026Article
- Combined Genetic and Transcriptional Study Unveils the Role ofBiomedicines · 2025Article
- A low-fat amino acid diet reverses intestinal failure and shows good growth trends in five infants with diacylglycerol transferase 1 (DGAT1) deficiency: a prospective cohort study.Lipids in health and disease · 2024Article
- DGAT1 Mutation Associated With Congenital Diarrhea in a Pediatric Patient: A Case Report.Cureus · 2024Article
- Modeling the cell biology of monogenetic intestinal epithelial disorders.The Journal of cell biology · 2024Review
- Novel DGAT1 Mutations Identified in Congenital Diarrheal Disorder 7: A Case Report with Therapeutic Experience.Balkan journal of medical genetics : BJMG · 2024Article
- Rotavirus-mediated DGAT1 degradation: A pathophysiological mechanism of viral-induced malabsorptive diarrhea.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Adipocyte Rnf20 ablation increases the fast-twitch fibers of skeletal muscle via lysophosphatidylcholine 16:0.Cellular and molecular life sciences : CMLS · 2023Article
- Case report: Diagnosis and treatment of DGAT1 deficiency-induced congenital diarrhea in two cases and literature review.Frontiers in pediatrics · 2023Article
- From Congenital Disorders of Fat Malabsorption to Understanding Intra-Enterocyte Mechanisms Behind Chylomicron Assembly and Secretion.Frontiers in physiology · 2021Review
- The Financial Burden of an Undiagnosed Congenital Diarrhea Disorder.Journal of pediatric gastroenterology and nutrition · 2020Article
- Trop2 is upregulated in the transition to dysplasia in the metaplastic gastric mucosa.The Journal of pathology · 2020Article
- The challenge of personalized cell biology: The example of microvillus inclusion disease.Traffic (Copenhagen, Denmark) · 2020Article
- DGAT2 partially compensates for lipid-induced ER stress in human DGAT1-deficient intestinal stem cells.Journal of lipid research · 2019Article
- Metabolic Effects of Bile Acids: Potential Role in Bariatric Surgery.Cellular and molecular gastroenterology and hepatology · 2019Review
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Authors and funding
16 authors at 3 institutions in 1 country.
Funding
Abstract
Deficiency in diacylglycerol acyltransferase (DGAT1) is a rare cause of neonatal diarrhea, without a known mechanism or in vitro model. A patient presenting at our institution at 7 weeks of life with failure to thrive and diarrhea was found by whole-exome sequencing to have a homozygous DGAT1 truncation mutation. Duodenal biopsies showed loss of DGAT1 and deficits in apical membrane transporters and junctional proteins in enterocytes. When placed on a very low-fat diet, the patient's diarrhea resolved with normalization of brush border transporter localization in endoscopic biopsies. DGAT1 knockdown in Caco2-BBe cells modeled the deficits in apical trafficking, with loss of apical DPPIV and junctional occludin. Elevation in cellular lipid levels, including diacylglycerol (DAG) and phospholipid metabolites of DAG, was documented by lipid analysis in DGAT1 knockdown cells. Culture of the DGAT1 knockdown cells in lipid-depleted media led to re-establishment of occludin and return of apical DPPIV. DGAT1 loss appears to elicit global changes in enterocyte polarized trafficking that could account for deficits in absorption seen in the patient. The in vitro modeling of this disease should allow for investigation of possible therapeutic targets.
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Registered trials
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