ArticleMolecular genetics and metabolism
A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment.
Article in Molecular genetics and metabolism. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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Who cites it
40 citing papers in PubMed, 70 citations in OpenAlex.
- A Nonketotic Hyperglycinemia Mouse Shows Wide-Ranging Biochemical Consequences of Elevated Glycine, Reduced Folate One-Carbon Charging, and Serine Deficiency.Journal of inherited metabolic disease · 2026Article
- Dietary Shift Leads to Venous Thrombosis-Induced Congestive Liver Failure in CBS-Deficient Mice.Journal of inherited metabolic disease · 2025Article
- Article
- Conquering homocystinuria with engineered probiotics.Cell host & microbe · 2024Article
- Selective HepaticInternational journal of molecular sciences · 2023Article
- Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria.British journal of pharmacology · 2023Review
- Hydrogen sulfide mitigates skeletal muscle mitophagy-led tissue remodeling via epigenetic regulation of the gene writer and eraser function.Physiological reports · 2022Article
- Emerging roles of cystathionine β-synthase in various forms of cancer.Redox biology · 2022Review
- Challenges in Metabolomics-Based Tests, Biomarkers Revealed by Metabolomic Analysis, and the Promise of the Application of Metabolomics in Precision Medicine.International journal of molecular sciences · 2022Review
- Analysis of differential neonatal lethality in cystathionine β-synthase deficient mouse models using metabolic profiling.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2021Article
- Estrogen Regulates Local Cysteine Metabolism in Mouse Myometrium.Reproductive sciences (Thousand Oaks, Calif.) · 2021Article
- Implications of hydrogen sulfide in liver pathophysiology: Mechanistic insights and therapeutic potential.Journal of advanced research · 2021Review
- Hyperhomocysteinemia and dyslipidemia in point mutation G307S of cystathionine β-synthase-deficient rabbit generated using CRISPR/Cas9.Lipids in health and disease · 2020Article
- Article
- Hypermethioninemia Leads to Fatal Bleeding and Increased Mortality in a Transgenic I278T Mouse Model of Homocystinuria.Biomedicines · 2020Article
- Review
- Hydrogen sulfide and hepatic lipid metabolism - a critical pairing for liver health.British journal of pharmacology · 2020Review
- Behavior, body composition, and vascular phenotype of homocystinuric mice on methionine-restricted diet or enzyme replacement therapy.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2019Article
- The Non-Essential Amino Acid Cysteine Becomes Essential for Tumor Proliferation and Survival.Cancers · 2019Review
- Homeostatic impact of sulfite and hydrogen sulfide on cysteine catabolism.British journal of pharmacology · 2019Review
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Authors and funding
18 authors at 5 institutions in 3 countries.
Funding
Abstract
Cystathionine beta-synthase (CBS) catalyzes the condensation of homocysteine (Hcy) and serine to cystathionine, which is then hydrolyzed to cysteine by cystathionine gamma-lyase. Inactivation of CBS results in CBS-deficient homocystinuria more commonly referred to as classical homocystinuria, which, if untreated, results in mental retardation, thromboembolic complications, and a range of connective tissue disorders. The molecular mechanisms that underlie the pathology of this disease are poorly understood. We report here the generation of a new mouse model of classical homocystinuria in which the mouse cbs gene is inactivated and that exhibits low-level expression of the human CBS transgene under the control of the human CBS promoter. This mouse model, designated "human only" (HO), exhibits severe elevations in both plasma and tissue levels of Hcy, methionine, S-adenosylmethionine, and S-adenosylhomocysteine and a concomitant decrease in plasma and hepatic levels of cysteine. HO mice exhibit mild hepatopathy but, in contrast to previous models of classical homocystinuria, do not incur hepatic steatosis, fibrosis, or neonatal death with approximately 90% of HO mice living for at least 6months. Tail bleeding determinations indicate that HO mice are in a hypercoagulative state that is significantly ameliorated by betaine treatment in a manner that recapitulates the disease as it occurs in humans. Our findings indicate that this mouse model will be a valuable tool in the study of pathogenesis in classical homocystinuria and the rational design of novel treatments.
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