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Lack of mitochondrial trifunctional protein in mice causes neonatal hypoglycemia and sudden death
Open accessAbstract
Mitochondrial trifunctional protein (MTP) is a hetero-octamer of four alpha and four beta subunits that catalyzes the final three steps of mitochondrial long chain fatty acid beta-oxidation. Human MTP deficiency causes Reye-like syndrome, cardiomyopathy, or sudden unexpected death. We used gene targeting to generate an MTP alpha subunit null allele and to produce mice that lack MTP alpha and beta subunits. The Mtpa(-/-) fetuses accumulate long chain fatty acid metabolites and have low birth weight compared with the Mtpa(+/-) and Mtpa(+/+) littermates. Mtpa(-/-) mice suffer neonatal hypoglycemia and sudden death 6-36 hours after birth. Analysis of the histopathological changes in the Mtpa(-/-) pups revealed rapid development of hepatic steatosis after birth and, later, significant necrosis and acute degeneration of the cardiac and diaphragmatic myocytes. This mouse model documents that intact mitochondrial long chain fatty acid oxidation is essential for fetal development and for survival after birth. Deficiency of MTP causes fetal growth retardation, neonatal hypoglycemia, and sudden death.
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“The mitochondrial trifunctional protein consists of an ␣ subunit (encoded by HADHA) and a  subunit (encoded by HADHB) (31).”
From Expression of miR-33 from an SREBP2 Intron Inhibits Cholesterol Export and Fatty Acid Oxidation* (2010) · cites this paper as [31]
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“Previous studies have shown that reduction of one or the other component in heterozygote knock-out mice leads to a concomitant reduction of the other subunit (31)(32)(33).”
From Expression of miR-33 from an SREBP2 Intron Inhibits Cholesterol Export and Fatty Acid Oxidation* (2010) · cites this paper as [31]
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Metadata
- Authors
- Ibdah, J. A., Paul, H., Zhao, Y., Binford, S., Salleng, K., Cline, M., Matern, D., Bennett, M. J., Rinaldo, P., & Strauss, A. W.
- Affiliations
- Wake Forest University Health Sciences (US)
- Wake Forest University (US)
- Mayo Clinic (US)
- The University of Texas Southwestern Medical Center (US)
- Vanderbilt University (US)
- Corresponding author
- Ibdah, Jamal A.
- Venue
- Journal of Clinical Investigation
- Published
- 2001-06-01
- Volume
- 107
- Issue
- 11
- Pages
- 1403-1409
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC209324
- OpenAlex
- W2144783460
- Cited by
- 181
- References
- 27
- Citations by year
- 2026: 2 · 2025: 4 · 2024: 7 · 2023: 4 · 2022: 5 · 2021: 5 · 2020: 11 · 2019: 7 · 2018: 5 · 2017: 10 · 2016: 9 · 2015: 12 · 2014: 5 · 2013: 9 · 2012: 6
- FWCI
- 4.46
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (AM 20407, 5k08dk002574-04)
- National Institute of Diabetes and Digestive and Kidney Diseases (DK-02574)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Glycogen Storage Diseases and Myoclonus
- Keywords
- mitochondrial trifunctional protein, long-chain fatty acid beta-oxidation, neonatal hypoglycemia, sudden unexpected death, hepatic steatosis, myocardial necrosis, fetal growth restriction, Reye-like syndrome, mitochondrial fatty acid oxidation
- MeSH terms
- Animals, Animals, Newborn, Blood Chemical Analysis, Crosses, Genetic, Death, Sudden, Diaphragm, Disease Models, Animal, Female, Embryonic and Fetal Development, Fetal Growth Retardation, Humans, Hypoglycemia, Liver, Male, Multienzyme Complexes, Myocardium, Immunoblotting, Mice, Knockout, Gene Targeting, Mice, Mitochondrial Trifunctional Protein
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