Cystathionine β-synthase-deficient mice thrive on a low-methionine diet

FASEB Journal

Volumn 28, Issue 2, 2014, Pages 781-790

  Gupta, Sapna ^a   Melnyk, Stepan B ^b   Kruger, Warren D ^a  

^a FOX CHASE CANCER CENTER   (United States)

^b UNIVERSITY OF ARKANSAS FOR MEDICAL SCIENCES   (United States)

Author keywords

Alopecia; Homocysteine; Inborn errors; Metabolism; Osteoporosis

Indexed keywords

ACYL COENZYME A DESATURASE; CYSTATHIONINE BETA SYNTHASE; CYSTEINE; HOMOCYSTEINE; METHIONINE;

AGE; ALOPECIA; AMINO ACID BLOOD LEVEL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BONE DENSITY; CONTROLLED STUDY; DIET RESTRICTION; FAT MASS; FEMALE; GENOTYPE ENVIRONMENT INTERACTION; GENOTYPE PHENOTYPE CORRELATION; HOMOCYSTINURIA; LOW METHIONINE DIET; MALE; MOUSE; NONHUMAN; OSTEOPOROSIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; WEANING; WEIGHT GAIN; ANIMAL; DIET THERAPY; DISEASE MODEL; INBORN ERRORS; KNOCKOUT MOUSE; METABOLISM; PHOTON ABSORPTIOMETRY;

ALOPECIA; HOMOCYSTEINE; INBORN ERRORS; METABOLISM; OSTEOPOROSIS;

ABSORPTIOMETRY, PHOTON; ANIMALS; CYSTATHIONINE BETA-SYNTHASE; DISEASE MODELS, ANIMAL; FEMALE; HOMOCYSTINURIA; MALE; METHIONINE; MICE; MICE, KNOCKOUT;

EID: 84897050178     PISSN: 08926638     EISSN: 15306860     Source Type: Journal    
DOI: 10.1096/fj.13-240770     Document Type: Article

References (31)

1. Mudd, S. H., Skovby, F., Levy, H. L., Pettigrew, K. D., Wilcken, B., Pyeritz, R. E., Andria, G., Boers, G. H., Bromberg, I. L., Cerone, R., Fowler, B., Gröbe, H., Schmidt, H., and Schweitzer, L. (1985) The natural history of homocystinuria due to cystathionine beta-synthase deficiency. Am. J. Hum. Genet. 37, 1-31
2. Reish, O., Townsend, D., Berry, S. A., Tsai, M. Y., and King, R. A. (1995) Tyrosinase inhibition due to interaction of homocyst( e)ine with copper: the mechanism for reversible hypopigmentation in homocystinuria due to cystathionine beta-synthase deficiency. Am. J. Hum. Genet. 57, 127-132
3. Brenton, D. P., Dow, C. J., James, J. I., Hay, R. L., and Wynne-Davies, R. (1972) Homocystinuria and Marfan's syndrome. A comparison. J. Bone Joint Surg. Br. 54, 277-298
4. Yap, S., and Naughten, E. (1998) Homocystinuria due to cystathionine synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control. J. Inherit. Metab. Dis. 21, 738-747
5. Sardharwalla, I. B., Jackson, S. H., Hawke, H. D., and Sass- Kortsak, A. (1968) Homocystinuria: a study with low-methionine diet in three patients. Can. Med. Assoc. J. 99, 731-740
6. Perry, T. L., Dunn, H. G., Hansen, S., MacDougall, L., and Warrington, P. D. (1966) Early diagnosis and treatment of homocystinuria. Pediatrics 37, 502-505
7. Komrower, G. M., Lambert, A. M., Cusworth, D. C., and Westall, R. G. (1966) Dietary treatment of homocystinuria. Arch. Dis. Child. 41, 666-671
8. Watanabe, M., Osada, J., Aratani, Y., Kluckman, K., Reddick, R., Malinow, M. R., and Maeda, N. (1995) Mice deficient in cystathionine synthase: animal models for mild and severe homocyst(e)inemia. Proc. Natl. Acad. Sci. U. S. A. 92, 1585-1589
9. Wang, L., Chen, X., Tang, B., Hua, X., Klein-Szanto, A., and Kruger, W. D. (2005) Expression of mutant human cystathionine synthase rescues neonatal lethality but not homocystinuria in a mouse model. Hum. Mol. Genet. 14, 2201-2208
10. Gupta, S., Kühnisch, J., Mustafa, A., Lhotak, S., Schlachterman, A., Slifker, M. J., Klein-Szanto, A., High, K. A., Austin, R. C., and Kruger, W. D. (2009) Mouse models of cystathionine synthase deficiency reveal significant threshold effects of hyperhomocysteinemia. FASEB J. 23, 883-893
11. Gupta, S., and Kruger, W. D. (2011) Cystathionine -synthase deficiency causes fat loss in mice. PLoS One 6, e27598
12. Wang, L., Jhee, K. H., Hua, X., DiBello, P. M., Jacobsen, D. W., and Kruger, W. D. (2004) Modulation of cystathionine -synthase level regulates total serum homocysteine in mice. Circ. Res. 94, 1318-1324
13. Melnyk, S., Pogribna, M., Pogribny, I. P., Yi, P., and James, S. J. (2000) Measurement of plasma and intracellular S-adenosylme-thionine and S-adenosylhomocysteine utilizing coulometric electrochemical detection: alterations with plasma homocysteine and pyridoxal 5=-phosphate concentrations. Clin. Chem. 46, 265-272
14. Paton, C. M., and Ntambi, J. M. (2009) Biochemical and physiological function of stearoyl-CoA desaturase. Am. J. Physiol. Endocrinol. Metab. 297, E28-E37
15. Robert, K., Maurin, N., Ledru, A., Delabar, J., and Janel, N. (2004) Hyperkeratosis in cystathionine synthase-deficient mice: an animal model of hyperhomocysteinemia. Anat. Rec. A Discov. Mol. Cell. Evol. Biol. 280, 1072-1076
16. Yi, P., Melnyk, S., Pogribna, M., Pogribny, I. P., Hine, R. J., and James, S. J. (2000) Increase in plasma homocysteine associated with parallel increases in plasma S-adenosylhomocysteine and lymphocyte DNA hypomethylation. J. Biol. Chem. 275, 29318-29323
17. Maclean, K. N., Greiner, L. S., Evans, J. R., Sood, S. K., Lhotak, S., Markham, N. E., Stabler, S. P., Allen, R. H., Austin, R. C., Balasubramaniam, V., and Jiang, H. (2012) Cystathionine protects against endoplasmic reticulum stress-induced lipid accumulation, tissue injury, and apoptotic cell death. J. Biol. Chem. 287, 31994-32005
18. Wilcken, D. E., and Wilcken, B. (1997) The natural history of vascular disease in homocystinuria and the effects of treatment. J. Inherit. Metab. Dis. 20, 295-300
19. Yap, S., Naughten, E. R., Wilcken, B., Wilcken, D. E., and Boers, G. H. (2000) Vascular complications of severe hyperhomocysteinemia in patients with homocystinuria due to cystathionine -synthase deficiency: effects of homocysteine-lowering therapy. Semin. Thromb. Hemost. 26, 335-340
20. Yap, S., Boers, G. H., Wilcken, B., Wilcken, D. E., Brenton, D. P., Lee, P. J., Walter, J. H., Howard, P. M., and Naughten, E. R. (2001) Vascular outcome in patients with homocystinuria due to cystathionine -synthase deficiency treated chronically: a multicenter observational study. Arterioscler. Thromb. Vasc. Biol. 21, 2080-2085
21. Brosnan, J. T. (2001) Homocysteine and the kidney. In Homocysteine in Health and Disease (Carmel, R., and Jacobsen, D.W., eds) pp 176-182, Cambridge University Press, Cambridge, UK
22. Carson, N. A., Cusworth, D. C., Dent, C. E., Field, C. M., Neill, D. W., and Westall, R. G. (1963) Homocystinuria: a new inborn error of metabolism associated with mental deficiency. Arch. Dis. Child. 38, 425-436
23. Maclean, K. N., Sikora, J., Kozich, V., Jiang, H., Greiner, L. S., Kraus, E., Krijt, J., Overdier, K. H., Collard, R., Brodsky, G. L., Meltesen, L., Crnic, L. S., Allen, R. H., Stabler, S. P., Elleder, M., Rozen, R., Patterson, D., and Kraus, J. P. (2010) 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. Mol. Genet. Metab. 101, 153-162
24. Storch, K. J., Wagner, D. A., Burke, J. F., and Young, V. R. (1988) Quantitative study in vivo of methionine cycle in humans using [methyl-2H3]- and [1-13C]methionine. Am. J. Physiol. 255, E322- E331
25. Benight, N. M., Stoll, B., Chacko, S., da Silva, V. R., Marini, J. C., Gregory, J. F., 3rd, Stabler, S. P., and Burrin, D. G. (2011) B-vitamin deficiency is protective against DSS-induced colitis in mice. Am. J. Physiol. Gastrointest. Liver Physiol. 301, G249-G259
26. Storch, K. J., Wagner, D. A., Burke, J. F., and Young, V. R. (1990) [1-13C; methyl-2H3]methionine kinetics in humans: methionine conservation and cystine sparing. Am. J. Physiol. 258, E790-E798
27. Lu, Y. H., Huang, Y. H., Cheng, L. M., Yu, H. C., Hsu, J. H., Wu, T. J. T., Lo, M. Y., Lin, A., Lin, C. Y., Wu, J. Y., and Niu, D. M. (2012) Homocystinuria in Taiwan: an inordinately high prevalence in an Austronesian aboriginal tribe, Tao. Mol. Genet. Metab. 105, 590-595
28. Cohen, P., Miyazaki, M., Socci, N. D., Hagge-Greenberg, A., Liedtke, W., Soukas, A. A., Sharma, R., Hudgins, L. C., Ntambi, J. M., and Friedman, J. M. (2002) Role for stearoyl-CoA desaturase- 1 in leptin-mediated weight loss. Science 297, 240-243
29. Keating, A. K., Freehauf, C., Jiang, H., Brodsky, G. L., Stabler, S. P., Allen, R. H., Graham, D. K., Thomas, J. A., Van Hove, J. L., and Maclean, K. N. (2011) Constitutive induction of proinflammatory and chemotactic cytokines in cystathionine -synthase deficient homocystinuria. Mol. Genet. Metab. 103, 330-337
30. Perrone, C. E., Mattocks, D. A., Jarvis-Morar, M., Plummer, J. D., and Orentreich, N. (2010) Methionine restriction effects on mitochondrial biogenesis and aerobic capacity in white adipose tissue, liver, and skeletal muscle of F344 rats. Metabolism 59, 1000-1011
31. Rizki, G., Arnaboldi, L., Gabrielli, B., Yan, J., Lee, G. S., Ng, R. K., Turner, S. M., Badger, T. M., Pitas, R. E., and Maher, J. J. (2006) Mice fed a lipogenic methionine-choline-deficient diet develop hypermetabolism coincident with hepatic suppression of SCD-1. J. Lipid Res. 47, 2280-2290