Tier 3 — preclinical

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

Kenneth N Maclean, Jakub Sikora, Viktor Kožich, Hua Jiang, Lori S Greiner, Eva Kraus, Jakub Krijt, Katherine H Overdier, Renata Collard, Gary L Brodsky, Lynne Meltesen, Linda S Crnic, Robert H Allen, Sally P Stabler, Milan Elleder, Rima Rozen, David Patterson, Jan P Kraus
Molecular genetics and metabolism 2010 101(2-3):153-162

Bibliography

PubMed
PMID 20638879
PubMed Central
PMC2954364
DOI
10.1016/j.ymgme.2010.06.010
Funding
Indexed grant support: P30 HD04024-39 — NICHD NIH HHS — United States; HL65217 — NHLBI NIH HHS — United States; R01 HL065217 — NHLBI NIH HHS — United States; Wellcome Trust — United Kingdom; P30 HD004024 — NICHD NIH HHS — United States. The indexed list may not contain the complete funding declaration.
Competing interests
A competing-interest declaration was not available in the indexed record or accessible disclosure metadata.

Study snapshot

DesignExperimental animal and/or laboratory research
ModelTransgenic CBS-deficient mice
SampleExperiment-specific biological replicates and model groups; see original methods
InterventionBetaine in a disease-model experiment
DurationModel-development and treatment experiments
EndpointsHomocystinuria model; Coagulation

What the study showed, in plain terms

Published in 2010, this source examined preclinical aging, brain and metabolic mechanisms. Design: Experimental animal and/or laboratory research. Sample/model: Experiment-specific biological replicates and model groups; see original methods. The exposure or intervention was Betaine in a disease-model experiment. Follow-up or treatment period: Model-development and treatment experiments.

The model reproduced severe metabolic abnormalities and hypercoagulation; betaine improved the coagulation phenotype.

Experimental model evidence. The intervention, concentrations and outcomes do not establish an effective human supplement dose or a clinical treatment benefit.

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Key findings

  • The model reproduced severe metabolic abnormalities and hypercoagulation; betaine improved the coagulation phenotype.
  • The recorded outcome domains were Homocystinuria model; Coagulation.
  • The result applies to the tested exposure: Betaine in a disease-model experiment; Model-development and treatment experiments.

What this study can and cannot tell us

  • Experimental model evidence. The intervention, concentrations and outcomes do not establish an effective human supplement dose or a clinical treatment benefit.
  • Cell concentrations, species, disease models and experimental routes cannot be converted directly into an effective or safe oral human regimen.
  • Source basis: Accessible full-text extract plus indexed bibliographic data. Missing method details, funding information or participant denominators are not inferred.

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Editorial review

Reviewed by the Biohack Blueprint research team

Last verified

Dr. Khaled Mahmoud, MBBChCritical Care Medicine, Longevity Science & Editorial Direction Dr. Amr Yasser, PhDCardiometabolic, Musculoskeletal, Gut & Bioavailability Dr. Abdulla Mostafa, PhDCellular Senescence, Neurological, Mitochondrial & Brain-Ageing Biology