NAD deficiency, congenital malformations, and niacin supplementation

New England Journal of Medicine

Volumn 377, Issue 6, 2017, Pages 544-552

  Shi, Hongjun ^a,b   Enriquez, Annabelle ^a,b,c   Rapadas, Melissa ^a   Martin, Ella M M A ^a   Wang, Roni ^a   Moreau, Julie ^a   Lim, Chai K ^d   Szot, Justin O ^a,b   Ip, Eddie ^a,b   Hughes, James N ^e   Sugimoto, Kotaro ^a   Humphreys, David T ^a,b   McInerney Leo, Aideen M ^f,g   Leo, Paul J ^f,g   Maghzal, Ghassan J ^a,b   Halliday, Jake ^a   Smith, Janine ^c   Colley, Alison ^c   Mark, Paul R ^j   Collins, Felicity ^c   Sillence, David O ^c   Winlaw, David S ^c   Ho, Joshua W K ^a,b   Guillemin, Gilles J ^d   Brown, Matthew A ^f,g   Kikuchi, Kazu ^a,b   Thomas, Paul Q ^e   Stocker, Roland ^a,b   Giannoulatou, Eleni ^a,b   Chapman, Gavin ^a,b   Duncan, Emma L ^f,g,h,i   Sparrow, Duncan B ^a,b   Dunwoodie, Sally L ^a,b   more..

^a VICTOR CHANG CARDIAC RESEARCH INSTITUTE   (Australia)

^b UNIVERSITY OF NEW SOUTH WALES   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d MACQUARIE UNIVERSITY   (Australia)

^e UNIVERSITY OF ADELAIDE   (Australia)

^f QUEENSLAND UNIVERSITY OF TECHNOLOGY   (Australia)

^g TRANSLATIONAL RESEARCH INSTITUTE   (Australia)

^h ROYAL BRISBANE AND WOMEN'S HOSPITAL   (Australia)

ⁱ UNIVERSITY OF QUEENSLAND   (Australia)

^j SPECTRUM HEALTH   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

3 HYDROXYANTHRANILATE 3,4 DIOXYGENASE; CASPASE 9; CRISPR ASSOCIATED PROTEIN; KYNURENINASE; KYNURENINE; NICOTINAMIDE ADENINE DINUCLEOTIDE; NICOTINIC ACID; TRYPTOPHAN; HYDROLASE;

ARTICLE; CONGENITAL HEART DISEASE; CONGENITAL MALFORMATION; CONTROLLED STUDY; EMBRYO; ENZYME ACTIVITY; FEMALE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; IN VITRO STUDY; INFANT; KIDNEY DISEASE; LOSS OF FUNCTION MUTATION; MALE; MOUSE; NICOTINAMIDE ADENINE DINUCLEOTIDE DEFICIENCY; NONHUMAN; NUTRITIONAL DEFICIENCY; PREGNANCY; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; VERTEBRA MALFORMATION; VITAMIN SUPPLEMENTATION; WHOLE GENOME SEQUENCING; ABNORMALITIES; ANAL CANAL; ANIMAL; BIOSYNTHESIS; CONGENITAL ABNORMALITIES; DEFICIENCY; DIETARY SUPPLEMENT; DISEASE MODEL; DNA SEQUENCE; ESOPHAGUS; GENETICS; HEART DEFECTS, CONGENITAL; KIDNEY; KNOCKOUT MOUSE; LIMB DEFORMITIES, CONGENITAL; METABOLISM; MUTATION; SPINE; TRACHEA;

3-HYDROXYANTHRANILATE 3,4-DIOXYGENASE; ANAL CANAL; ANIMALS; CONGENITAL ABNORMALITIES; DIETARY SUPPLEMENTS; DISEASE MODELS, ANIMAL; ESOPHAGUS; FEMALE; HEART DEFECTS, CONGENITAL; HUMANS; HYDROLASES; KIDNEY; LIMB DEFORMITIES, CONGENITAL; MALE; MICE; MICE, KNOCKOUT; MUTATION; NAD; NIACIN; SEQUENCE ANALYSIS, DNA; SPINE; TRACHEA;

EID: 85027157627     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1616361     Document Type: Article

References (33)

1. Dolk H, Loane M, Garne E. The prevalence of congenital anomalies in Europe. Adv Exp Med Biol 2010;686:349-64.
2. Rosa RC, Rosa RF, Zen PR, Paskulin GA. Congenital heart defects and extra-cardiac malformations. Rev Paul Pediatr 2013;31:243-51.
3. Solomon BD. VACTERL/VATER association. Orphanet J Rare Dis 2011;6:56.
4. Blue GM, Kirk EP, Giannoulatou E, et al. Targeted next-generation sequencing identifies pathogenic variants in familial congenital heart disease. J Am Coll Cardiol 2014;64:2498-506.
5. Bulman MP, Kusumi K, Frayling TM, et al. Mutations in the human delta homologue, DLL3, cause axial skeletal defects in spondylocostal dysostosis. Nat Genet 2000;24:438-41.
6. Whittock NV, Sparrow DB, Wouters MA, et al. Mutated MESP2 causes spondylocostal dysostosis in humans. Am J Hum Genet 2004;74:1249-54.
7. Sparrow DB, Chapman G, Wouters MA, et al. Mutation of the LUNATIC FRINGE gene in humans causes spondylocostal dysostosis with a severe vertebral phenotype. Am J Hum Genet 2006;78:28-37.
8. Sparrow DB, Guillén-Navarro E, Fatkin D, Dunwoodie SL. Mutation of Hairy-and-Enhancer-of-Split-7 in humans causes spondylocostal dysostosis. Hum Mol Genet 2008;17:3761-6.
9. Sparrow DB, McInerney-Leo A, Gucev ZS, et al. Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6. Hum Mol Genet 2013;22:1625-31.
10. McInerney-Leo AM, Sparrow DB, Harris JE, et al. Compound heterozygous mutations in RIPPLY2 associated with vertebral segmentation defects. Hum Mol Genet 2015;24:1234-42.
11. Mohamed JY, Faqeih E, Alsiddiky A, Alshammari MJ, Ibrahim NA, Alkuraya FS. Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. Am J Hum Genet 2013;92:157-61.
12. Chen Y, Liu Z, Chen J, et al. The genetic landscape and clinical implications of vertebral anomalies in VACTERL association. J Med Genet 2016;53:431-7.
13. Sobreira N, Schiettecatte F, Valle D, Hamosh A. GeneMatcher: a matching tool for connecting investigators with an interest in the same gene. Hum Mutat 2015; 36:928-30.
14. Christensen M, Duno M, Lund AM, Skovby F, Christensen E. Xanthurenic aciduria due to a mutation in KYNU encoding kynureninase. J Inherit Metab Dis 2007;30:248-55.
15. Jacobson EL, Shieh WM, Huang AC. Mapping the role of NAD metabolism in prevention and treatment of carcinogenesis. Mol Cell Biochem 1999;193:69-74.
16. Holliday MA, Potter D, Jarrah A, Bearg S. The relation of metabolic rate to body weight and organ size. Pediatr Res 1967;1:185-95.
17. Terakata M, Fukuwatari T, Sano M, et al. Establishment of true niacin deficiency in quinolinic acid phosphoribosyltransferase knockout mice. J Nutr 2012;142: 2148-53.
18. Bachmanov AA, Reed DR, Beauchamp GK, Tordoff MG. Food intake, water intake, and drinking spout side preference of 28 mouse strains. Behav Genet 2002; 32:435-43.
19. Lovelace MD, Varney B, Sundaram G, et al. Recent evidence for an expanded role of the kynurenine pathway of tryptophan metabolism in neurological diseases. Neuropharmacology 2017;112:373-88.
20. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 2015;17:405-24.
21. Wan P, Moat S, Anstey A. Pellagra: a review with emphasis on photosensitivity. Br J Dermatol 2011;164:1188-200.
22. Baker H, DeAngelis B, Holland B, Gittens-Williams L, Barrett T Jr. Vitamin profile of 563 gravidas during trimesters of pregnancy. J Am Coll Nutr 2002;21:33-7.
23. Kleta R, Romeo E, Ristic Z, et al. Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. Nat Genet 2004; 36:999-1002.
24. Oxenkrug G. Insulin resistance and dysregulation of tryptophan-kynurenine and kynurenine-nicotinamide adenine dinucleotide metabolic pathways. Mol Neurobiol 2013;48:294-301.
25. Aasheim ET, Hofsø D, Hjelmesaeth J, Birkeland KI, Bøhmer T. Vitamin status in morbidly obese patients: a cross-sectional study. Am J Clin Nutr 2008;87:362-9.
26. Allegri G, Zaccarin D, Ragazzi E, Froldi G, Bertazzo A, Costa CVL. Metabolism of tryptophan along the kynurenine pathway in alloxan diabetic rabbits. Adv Exp Med Biol 2003;527:387-93.
27. Sasaki Y, Margolin Z, Borgo B, Havranek JJ, Milbrandt J. Characterization of Leber congenital amaurosis-associated NMNAT1 mutants. J Biol Chem 2015;290: 17228-38.
28. Kirkland JB. Niacin requirements for genomic stability. Mutat Res 2012;733:14-20.
29. Cantó C, Menzies KJ, Auwerx J. NAD(+) metabolism and the control of energy homeostasis: a balancing act between mitochondria and the nucleus. Cell Metab 2015;22:31-53.
30. Huang J-Y, Hirschey MD, Shimazu T, Ho L, Verdin E. Mitochondrial sirtuins. Biochim Biophys Acta 2010;1804:1645-51.
31. Correia M, Perestrelo T, Rodrigues AS, et al. Sirtuins in metabolism, stemness and differentiation. Biochim Biophys Acta 2017;1861:1 Pt A:3444-55.
32. Cheng H-L, Mostoslavsky R, Saito S, et al. Developmental defects and p53 hyperacetylation in Sir2 homolog (SIRT1)-deficient mice. Proc Natl Acad Sci U S A 2003; 100:10794-9.
33. Vinson RK, Hales BF. DNA repair during organogenesis. Mutat Res 2002;509: 79-91.