Associations of Mitochondrial Haplogroups B4 and E with Biliary Atresia and Differential Susceptibility to Hydrophobic Bile Acid

PLoS Genetics

Volumn 9, Issue 8, 2013, Pages

  Tiao, Mao Meng ^a   Liou, Chia Wei ^a   Huang, Li Tung ^a   Wang, Pei Wen ^a   Lin, Tsu Kung ^a   Chen, Jin Bor ^a   Chou, Yao Min ^a   Huang, Ying Hsien ^a   Lin, Hung Yu ^b   Chen, Chao Long ^a   Chuang, Jiin Haur ^a  

^a CHANG GUNG UNIVERSITY COLLEGE OF MEDICINE   (Taiwan)

^b NATIONAL SUN YAT SEN UNIVERSITY   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

BILE ACID; MITOCHONDRIAL DNA; MITOFUSIN 1; MITOFUSIN 2; REACTIVE OXYGEN METABOLITE;

APOPTOSIS; ARTICLE; BILE DUCT ATRESIA; CELL VIABILITY; CHILD; CONTROLLED STUDY; FEMALE; GENE DOSAGE; GENETIC ASSOCIATION; HAPLOGROUP B4; HAPLOGROUP E; HAPLOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; MITOCHONDRIAL MEMBRANE POTENTIAL; PATHOGENESIS; PREDICTIVE VALUE; PRESCHOOL CHILD; PROGNOSIS; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SURVIVAL RATE; TAIWAN;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BILE ACIDS AND SALTS; BILIARY ATRESIA; CHILD; CHILD, PRESCHOOL; DNA, MITOCHONDRIAL; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; HYDROPHOBIC AND HYDROPHILIC INTERACTIONS; INFANT; MALE; MEMBRANE POTENTIAL, MITOCHONDRIAL; MIDDLE AGED; MITOCHONDRIA; POLYMORPHISM, SINGLE NUCLEOTIDE; SURVIVAL RATE;

EID: 84884597600     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1003696     Document Type: Article

References (52)

1. Broide E, Klinowski E, Koukoulis G, Hadzic N, Portmann B, et al. (2000) Superoxide dismutase activity in children with chronic liver diseases. J Hepatol 32: 188-192.
2. Tiao MM, Lin TK, Kuo FY, Huang CC, Du YY, et al. (2007) Early stage of biliary atresia is associated with significant changes in 8-hydroxydeoxyguanosine and mitochondrial copy number. J Pediatr Gastroenterol Nutr 45: 329-334.
3. Vic P, Gestas P, Mallet EC, Arnaud JP, (1994) [Biliary atresia in French Polynesia. Retrospective study of 10 years]. Arch Pediatr 1: 646-651.
4. Lin YC, Chang MH, Liao SF, Wu JF, Ni YH, et al. (2011) Decreasing rate of biliary atresia in Taiwan: a survey, 2004-2009. Pediatrics 128: e530-536.
5. Grizelj R, Vukovic J, Novak M, Batinica S, (2010) Biliary atresia: the Croatian experience 1992-2006. Eur J Pediatr 169: 1529-1534.
6. Sykes B, Leiboff A, Low-Beer J, Tetzner S, Richards M, (1995) The origins of the Polynesians: an interpretation from mitochondrial lineage analysis. Am J Hum Genet 57: 1463-1475.
7. Soares P, Rito T, Trejaut J, Mormina M, Hill C, et al. (2011) Ancient voyaging and Polynesian origins. Am J Hum Genet 88: 239-247.
8. Trejaut JA, Kivisild T, Loo JH, Lee CL, He CL, et al. (2005) Traces of archaic mitochondrial lineages persist in Austronesian-speaking Formosan populations. PLoS Biol 3: e247.
9. Tabbada KA, Trejaut J, Loo JH, Chen YM, Lin M, et al. (2010) Philippine mitochondrial DNA diversity: a populated viaduct between Taiwan and Indonesia? Mol Biol Evol 27: 21-31.
10. Cann RL, Stoneking M, Wilson AC, (1987) Mitochondrial DNA and human evolution. Nature 325: 31-36.
11. Wallace DC, (1999) Mitochondrial diseases in man and mouse. Science 283: 1482-1488.
12. Wallace DC, (2005) A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine. Annu Rev Genet 39: 359-407.
13. Fuku N, Oshida Y, Takeyasu T, Guo LJ, Kurata M, et al. (2002) Mitochondrial ATPase subunit 6 and cytochrome B gene polymorphisms in young obese adults. Biochem Biophys Res Commun 290: 1199-1205.
14. Guo LJ, Oshida Y, Fuku N, Takeyasu T, Fujita Y, et al. (2005) Mitochondrial genome polymorphisms associated with type-2 diabetes or obesity. Mitochondrion 5: 15-33.
15. Nishigaki Y, Yamada Y, Fuku N, Matsuo H, Segawa T, et al. (2007) Mitochondrial haplogroup A is a genetic risk factor for atherothrombotic cerebral infarction in Japanese females. Mitochondrion 7: 72-79.
16. Dimauro S, Davidzon G, (2005) Mitochondrial DNA and disease. Ann Med 37: 222-232.
17. Taylor RW, Turnbull DM, (2005) Mitochondrial DNA mutations in human disease. Nat Rev Genet 6: 389-402.
18. Zhang R, Zhang F, Wang C, Wang S, Shiao YH, et al. (2010) Identification of sequence polymorphism in the D-Loop region of mitochondrial DNA as a risk factor for hepatocellular carcinoma with distinct etiology. J Exp Clin Cancer Res 29: 130.
19. Chen Y, Liu Y, Dorn GW 2nd, (2011) Mitochondrial fusion is essential for organelle function and cardiac homeostasis. Circ Res 109: 1327-1331.
20. Lin TK, Lin HY, Chen SD, Chuang YC, Chuang JH, et al. (2012) The creation of cybrids harboring mitochondrial haplogroups in the Taiwanese population of ethnic Chinese background: an extensive in vitro tool for the study of mitochondrial genomic variations. Oxid Med Cell Longev 2012: 824275.
21. Pakendorf B, Stoneking M, (2005) Mitochondrial DNA and human evolution. Annu Rev Genomics Hum Genet 6: 165-183.
22. Lightowlers RN, Chinnery PF, Turnbull DM, Howell N, (1997) Mammalian mitochondrial genetics: heredity, heteroplasmy and disease. Trends Genet 13: 450-455.
23. Protti A, Singer M, (2007) Strategies to modulate cellular energetic metabolism during sepsis. Novartis Found Symp 280: 7-16 discussion 16-20, 160-164.
24. Amo T, Yadava N, Oh R, Nicholls DG, Brand MD, (2008) Experimental assessment of bioenergetic differences caused by the common European mitochondrial DNA haplogroups H and T. Gene 411: 69-76.
25. Herrnstadt C, Howell N, (2004) An evolutionary perspective on pathogenic mtDNA mutations: haplogroup associations of clinical disorders. Mitochondrion 4: 791-798.
26. DiMauro S, Schon EA, (2001) Mitochondrial DNA mutations in human disease. Am J Med Genet 106: 18-26.
27. Robin ED, Wong R, (1988) Mitochondrial DNA molecules and virtual number of mitochondria per cell in mammalian cells. J Cell Physiol 136: 507-513.
28. Wiesner RJ, Kurowski TT, Zak R, (1992) Regulation by thyroid hormone of nuclear and mitochondrial genes encoding subunits of cytochrome-c oxidase in rat liver and skeletal muscle. Mol Endocrinol 6: 1458-1467.
29. Renis M, Cantatore P, Loguercio Polosa P, Fracasso F, Gadaleta MN, (1989) Content of mitochondrial DNA and of three mitochondrial RNAs in developing and adult rat cerebellum. J Neurochem 52: 750-754.
30. Shay JW, Pierce DJ, Werbin H, (1990) Mitochondrial DNA copy number is proportional to total cell DNA under a variety of growth conditions. J Biol Chem 265: 14802-14807.
31. Baudouin SV, Saunders D, Tiangyou W, Elson JL, Poynter J, et al. (2005) Mitochondrial DNA and survival after sepsis: a prospective study. Lancet 366: 2118-2121.
32. Liou CW, Chen JB, Tiao MM, Weng SW, Huang TL, et al. (2012) Mitochondrial DNA coding and control region variants as genetic risk factors for type 2 diabetes. Diabetes 61: 2642-2651.
33. Park KS, Chan JC, Chuang LM, Suzuki S, Araki E, et al. (2008) A mitochondrial DNA variant at position 16189 is associated with type 2 diabetes mellitus in Asians. Diabetologia 51: 602-608.
34. Liu Y, Fiskum G, Schubert D, (2002) Generation of reactive oxygen species by the mitochondrial electron transport chain. J Neurochem 80: 780-787.
35. Ling X, Zhou Y, Li SW, Yan B, Wen L, (2010) Modulation of mitochondrial permeability transition pore affects multidrug resistance in human hepatocellular carcinoma cells. Int J Biol Sci 6: 773-783.
36. Ji YB, Qu ZY, Zou X, (2011) Juglone-induced apoptosis in human gastric cancer SGC-7901 cells via the mitochondrial pathway. Exp Toxicol Pathol 63: 69-78.
37. Ly JD, Grubb DR, Lawen A, (2003) The mitochondrial membrane potential (deltapsi(m)) in apoptosis; an update. Apoptosis 8: 115-128.
38. Gottlieb E, Vander Heiden MG, Thompson CB, (2000) Bcl-x(L) prevents the initial decrease in mitochondrial membrane potential and subsequent reactive oxygen species production during tumor necrosis factor alpha-induced apoptosis. Mol Cell Biol 20: 5680-5689.
39. Jahani-Asl A, Cheung EC, Neuspiel M, MacLaurin JG, Fortin A, et al. (2007) Mitofusin 2 protects cerebellar granule neurons against injury-induced cell death. J Biol Chem 282: 23788-23798.
40. Gomez-Duran A, Pacheu-Grau D, Lopez-Gallardo E, Diez-Sanchez C, Montoya J, et al. (2010) Unmasking the causes of multifactorial disorders: OXPHOS differences between mitochondrial haplogroups. Hum Mol Genet 19: 3343-3353.
41. Hua S, Zhang H, Song Y, Li R, Liu J, et al. (2012) High expression of Mfn1 promotes early development of bovine SCNT embryos: improvement of mitochondrial membrane potential and oxidative metabolism. Mitochondrion 12: 320-327.
42. Scott SV, Cassidy-Stone A, Meeusen SL, Nunnari J, (2003) Staying in aerobic shape: how the structural integrity of mitochondria and mitochondrial DNA is maintained. Curr Opin Cell Biol 15: 482-488.
43. Kim G, Her Y, Park J, Moon Y, Yoo Y, et al. (2004) Synthetic Bile Acid Derivative HS-1200-induced Apoptosis of Human Osteosarcoma Cells. The Korean J Anat 37: 449-457.
44. Dubreuil M, Ruiz-Gaspa S, Guanabens N, Peris P, Alvarez L, et al. (2013) Ursodeoxycholic acid increases differentiation and mineralization and neutralizes the damaging effects of bilirubin on osteoblastic cells. Liver Int 33: 1029-1038.
45. Liou CW, Lin TK, Chen JB, Tiao MM, Weng SW, et al. (2010) Association between a common mitochondrial DNA D-loop polycytosine variant and alteration of mitochondrial copy number in human peripheral blood cells. J Med Genet 47: 723-728.
46. Itoh Y, Mizuki N, Shimada T, Azuma F, Itakura M, et al. (2005) High-throughput DNA typing of HLA-A,-B,-C, and-DRB1 loci by a PCR-SSOP-Luminex method in the Japanese population. Immunogenetics 57: 717-729.
47. Tanaka M, Cabrera VM, Gonzalez AM, Larruga JM, Takeyasu T, et al. (2004) Mitochondrial genome variation in eastern Asia and the peopling of Japan. Genome Res 14: 1832-1850.
48. Yao YG, Kong QP, Bandelt HJ, Kivisild T, Zhang YP, (2002) Phylogeographic differentiation of mitochondrial DNA in Han Chinese. Am J Hum Genet 70: 635-651.
49. Chang YC, Liao CB, Hsieh PY, Liou ML, Liu YC, (2008) Expression of tumor suppressor p53 facilitates DNA repair but not UV-induced G2/M arrest or apoptosis in Chinese hamster ovary CHO-K1 cells. J Cell Biochem 103: 528-537.
50. Tiao MM, Lin TK, Liou CW, Wang PW, Chen JB, et al. (2009) Early transcriptional deregulation of hepatic mitochondrial biogenesis and its consequent effects on murine cholestatic liver injury. Apoptosis 14: 890-899.
51. Granger DL, Lehninger AL, (1982) Sites of inhibition of mitochondrial electron transport in macrophage-injured neoplastic cells. J Cell Biol 95: 527-535.
52. Vrbacky M, Krijt J, Drahota Z, Melkova Z, (2003) Inhibitory effects of Bcl-2 on mitochondrial respiration. Physiol Res 52: 545-554.