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Neutral aminoaciduria in cystathionine β-synthase-deficient mice, an animal model of homocystinuria
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- Noriyuki Akahoshi
- Department of Molecular and Cellular Neurobiology, Gunma University Graduate School of Medicine, Gunma, Japan;
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- Shotaro Kamata
- Department of Biochemistry, Keio University Graduate School of Pharmaceutical Sciences, Tokyo, Japan
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- Masashi Kubota
- Department of Biochemistry, Keio University Graduate School of Pharmaceutical Sciences, Tokyo, Japan
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- Takako Hishiki
- Japan Science and Technology Agency (JST), Exploratory Research for Advanced Technology (ERATO), Suematsu Gas Biology Project, Tokyo, Japan;
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- Yoshiko Nagahata
- Japan Science and Technology Agency (JST), Exploratory Research for Advanced Technology (ERATO), Suematsu Gas Biology Project, Tokyo, Japan;
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- Tomomi Matsuura
- Japan Science and Technology Agency (JST), Exploratory Research for Advanced Technology (ERATO), Suematsu Gas Biology Project, Tokyo, Japan;
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- Chiho Yamazaki
- Department of Molecular and Cellular Neurobiology, Gunma University Graduate School of Medicine, Gunma, Japan;
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- Yuka Yoshida
- Department of Molecular and Cellular Neurobiology, Gunma University Graduate School of Medicine, Gunma, Japan;
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- Hidenori Yamada
- Department of Molecular and Cellular Neurobiology, Gunma University Graduate School of Medicine, Gunma, Japan;
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- Yasuki Ishizaki
- Department of Molecular and Cellular Neurobiology, Gunma University Graduate School of Medicine, Gunma, Japan;
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- Makoto Suematsu
- Japan Science and Technology Agency (JST), Exploratory Research for Advanced Technology (ERATO), Suematsu Gas Biology Project, Tokyo, Japan;
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- Tadashi Kasahara
- Department of Biochemistry, Keio University Graduate School of Pharmaceutical Sciences, Tokyo, Japan
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- Isao Ishii
- Department of Molecular and Cellular Neurobiology, Gunma University Graduate School of Medicine, Gunma, Japan;
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Description
<jats:p>The kidney is one of the major loci for the expression of cystathionine β-synthase (CBS) and cystathionine γ-lyase (CTH). While CBS-deficient ( Cbs<jats:sup>−/−</jats:sup>) mice display homocysteinemia/methioninemia and severe growth retardation, and rarely survive beyond the first 4 wk, CTH-deficient ( Cth<jats:sup>−/−</jats:sup>) mice show homocysteinemia/cystathioninemia but develop with no apparent abnormality. This study examined renal amino acid reabsorption in those mice. Although both 2-wk-old Cbs<jats:sup>−/−</jats:sup>and Cth<jats:sup>−/−</jats:sup>mice had normal renal architecture, their serum/urinary amino acid profiles largely differed from wild-type mice. The most striking feature was marked accumulation of Met and cystathionine in serum/urine/kidney samples of Cbs<jats:sup>−/−</jats:sup>and Cth<jats:sup>−/−</jats:sup>mice, respectively. Levels of some neutral amino acids (Val, Leu, Ile, and Tyr) that were not elevated in Cbs<jats:sup>−/−</jats:sup>serum were highly elevated in Cbs<jats:sup>−/−</jats:sup>urine, and urinary excretion of other neutral amino acids (except Met) was much higher than expected from their serum levels, demonstrating neutral aminoaciduria in Cbs<jats:sup>−/−</jats:sup>(not Cth<jats:sup>−/−</jats:sup>) mice. Because the bulk of neutral amino acids is absorbed via a B<jats:sup>0</jats:sup>AT1 transporter and Met has the highest substrate affinity for B<jats:sup>0</jats:sup>AT1 than other neutral amino acids, hypermethioninemia may cause hyperexcretion of neutral amino acids.</jats:p>
Journal
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- American Journal of Physiology-Renal Physiology
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American Journal of Physiology-Renal Physiology 306 (12), F1462-F1476, 2014-06-15
American Physiological Society