Increased number of substitutions in the D-loop of mitochondrial DNA in the sudden infant death syndrome

Acta Paediatrica, International Journal of Paediatrics

Volumn 87, Issue 10, 1998, Pages 1039-1044

  Opdal, S H ^a   Rognum, T O ^a   Vege, A ^a   Stave, A K ^a   Dupuy, B M ^a   Egeland, T ^a  

^a OSLO UNIVERSITY HOSPITAL   (Norway)

Author keywords

D loop; Mitochondrial DNA; Sudden infant death syndrome

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATE; MITOCHONDRIAL DNA;

ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; GENE MUTATION; HAPLOTYPE; HUMAN; INFANT; INFANT DISEASE; MAJOR CLINICAL STUDY; NEWBORN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SUDDEN INFANT DEATH SYNDROME;

DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; HUMANS; INFANT; MALE; SUDDEN INFANT DEATH;

EID: 0031670876     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1080/080352598750031347     Document Type: Article

References (29)

1. Anderson S, Bankier AT, Barell BG, de Bruijn MHL, Coulson AR, Drouin J, et al. Sequence and organisation of the human mitochondrial genome. Nature 1981; 290: 457-65
2. Crews S, Ojala D, Posakony J, Nishiguchi J, Attardi G. Nucleotide sequence of a region of human mitochondrial DNA containing the precisely identified origin of replication. Nature 1979; 277: 192-8
3. Wallace DC. Diseases of the mitochondrial DNA. Annu Rev Biochem 1992; 61: 1175-212
4. Neckelmann N, Li K, Wade RP, Shuster R, Wallace DC. cDNA sequence of a human skeletal muscle ADP/ATP translocator: Lack of a leader peptide, divergence from a fibroblast translocator cDNA, and coevolution with mitochondrial DNA genes. Proc Natl Acad Sci USA 1987; 84: 7580-4
5. Güntheroth WG, Lohmann R, Spiers PS. Risk of sudden infant death syndrome in subsequent siblings. J Pediatr 1990; 116: 520-4
6. Øyen N, Skjærven R, Irgens LM. Population-based recurrence risk of sudden infant death syndrome compared with other infant and fetal deaths. Am J Epidemiol 1996; 144: 300-5
7. Beal SM. Siblings of sudden infant death syndrome victims. Clin Perinat 1992; 19: 839-48
8. Peterson DR, Chinn NM, Fisher LD. The sudden infant death syndrome: repetitions in families. J Pediatr 1980; 97: 265-7
9. Einspieler C, Widder J, Holzer A, Kenner T. The predictive value of behavioural risk factors for sudden infant death. Early Hum Dev 1988; 18: 101-9
10. Kahn A, Grosswasser J, Rebuffat E, Sottiaux M, Blum D, Foerster M, et al. Sleep and cardiorespiratory characteristics of infant victims of sudden death: a prospective case-control study. Sleep 1992; 15: 287-92
11. Andersen A, Amestad M, Rognum TO, Vege Å. Cot death in eastern part of Norway 1984-92. Tidsskr Nor Lægeforen. 1994; 115: 34-7
12. Rognum TO, Saugstad OD. Hypoxanthine levels in vitreous humor: evidence of hypoxia in most infants who died of sudden infant death syndrome. Pediatrics 1991; 87: 306-10
13. Vege Å, Chen Y, Opdal SH, Saugstad OD, Rognum TO. Vitreous humor hypoxanthine levels in SIDS and infectious death. Acta Pædiatr 1994; 83: 634-9
14. Harkness RA. Hypoxamhine, xanthine and uridine in body fluids, indicators of ATP depletion. J Chromat 1988; 429: 255-78
15. Marchington DR, Poulton J, Sellar A, Holt IJ. Do sequence variants in the major non-coding region of the mitochondrial genome influence mitochondrial mutations associated with disease? Hum Mol Genet 1996; 5: 473-9
16. Gregersen M, Rajs J, Laursen H, Baandrup U, Fredriksen P, Gidlund E, et al. Pathologic criteria for the Nordic study of SIDS. In: Rognum TO, editor. Sudden infant death syndrome, new trends in the nineties. Oslo: Scandinavian University Press, 1995: 50-8
17. Good P. Permutation tests. New York: Springer, 1994
18. Hudson RR, Boos DD, Kaplan NL. A statistical test for detecting geographical subdivision. Mol Biol Evol 1992; 9: 138-51
19. Saugstad OD, Gluck L. Plasma hypoxanthine levels in newborn infants: a specific indicator of hypoxia. J Perinat Med 1982; 10: 266-72
20. Richter C, Park J-W, Ames BN. Normal oxidative damage to mitochondrial and nuclear DNA is extensive. Proc Natl Acad Sci USA 1988; 85: 6465-7
21. Saugstad OD. Hypoxanthine as an indicator of hypoxia: its role in health and disease through free radical production. Pediatr Res 1988; 23: 143-50
22. Mitchell EA. Smoking: The next major and modifiable risk factor. In: Rognum TO, editor. Sudden infant death syndrome, new trends in the nineties. Oslo: Scandinavian University Press, 1995: 114-8
23. Ballinger SW, Bouder TG, Davis GS, Judice SA, Nicklas JA, Albertini RJ. Mitochondrial genome damage associated with cigarette smoking. Cancer Res 1996; 56: 5692-7
24. Wallace DC. Mitochondrial DNA variation in human evolution, degenerative disease, and aging. Am J Hum Genet 1995; 57: 201-23
25. Tatuch Y, Christodouluo J, Feigenbaum A, Clarke JTR, Wherret J, Smith C, et al. Heteroplasmic mtDNA mutation (T→G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high. Am J Hum Genet 1992; 50: 852-8
26. Fagan DG, Bonham JR, Guthrie PJ, Olpin SE, Downing M, Manning NJM, et al. A case of sudden unexpected infant death with mitochondrial mutation (8993 T-C, NARP). Abstract presented at the VIIth ESPID (European Society for the Study and Prevention of Infant Death) congress, 1-3 May, 1997, Barcelona, Spain
27. Leu(UUR) gene associated with maternally inherited cardiomyopathy. Hum Mutat 1994; 3: 37-43
28. Santorelli FM, Schlessel JS, Slonim AE, DiMauro S. Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death. Pediat Neurol 1996; 15: 145-9
29. Hofmann S, Jaksch M, Bezold R, Mertens S, Aholt S, Paprotta A, et al. Population genetics and disease suscetibility: characterization of central European haplotypes by mtDNA gene mutations, correlation with D loop variants and association with disease. Hum Mol Genet 1997; 6: 1835-46