Mitochondrial variants in schizophrenia, bipolar disorder, and major depressive disorder

PLoS ONE

Volumn 4, Issue 3, 2009, Pages

  Rollins, Brandi ^a   Martin, Maureen V ^a   Sequeira, P Adolfo ^a   Moon, Emily A ^a   Morgan, Ling Z ^a   Watson, Stanley J ^a   Schatzberg, Alan ^c   Akil, Huda ^b   Myers, Richard M ^d   Jones, Edward G ^e   Wallace, Douglas C ^f   Bunney, William E ^a   Vawter, Marquis P ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c STANFORD UNIVERSITY   (United States)

^d HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY   (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ALLELE; ARTICLE; BIPOLAR DISORDER; BRAIN MITOCHONDRION; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA MICROARRAY; DNA SEQUENCE; FEMALE; GENETIC VARIABILITY; GENOME ANALYSIS; HAPLOTYPE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MAJOR DEPRESSION; MALE; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PH; PREFRONTAL CORTEX; SCHIZOPHRENIA; CAPILLARY ELECTROPHORESIS; CASE CONTROL STUDY; GENETICS; METABOLISM; MITOCHONDRION; MUTATION; OXIDATIVE PHOSPHORYLATION; SINGLE NUCLEOTIDE POLYMORPHISM;

BIPOLAR DISORDER; CASE-CONTROL STUDIES; DEPRESSIVE DISORDER, MAJOR; DNA, MITOCHONDRIAL; ELECTROPHORESIS, CAPILLARY; HAPLOTYPES; HUMANS; MITOCHONDRIA; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; OXIDATIVE PHOSPHORYLATION; POLYMORPHISM, SINGLE NUCLEOTIDE; SCHIZOPHRENIA;

EID: 62849119061     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0004913     Document Type: Article

References (109)

1. Giles RE, Blanc H, Cann HM, Wallace DC (1980) Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci U S A 77: 6715-6719.
2. Gottesman II, Bertelsen A (1991) Confirming unexpressed genotypes for schizophrenia. Risks in the offspring of Fischer's Danish identical and fraternal disocordant twins. Arch Gen Psychiatry 46: 867-872.
3. Goldstein JM, Faraone SV, Chen WJ, Tsuang MT (1992) Gender and the familial risk for schizophrenia. Disentangling confounding factors. Schizophr Res 7: 135-140.
4. Wolyniec PS, Pulver AE, McGrath JA, Tam D (1992) Schizophrenia: gender and familial risk. J Psychiatr Res 26: 17-27.
5. Shimizu A, Kurachi M, Yamaguchi N, Torii H, Isaki K (1987) Morbidity risk of schizophrenia to parents and siblings of schizophrenic patients. Jpn J Psychiatry Neurol 41: 65-70.
6. McMahon FJ, Stine OC, Meyers DA, Simpson SG, DePaulo JR (1995) Patterns of maternal transmission in bipolar affective disorder. Am J Hum Genet 56: 1277-1286.
7. Gershon ES, Badner JA, Detera-Wadleigh SD, Ferraro TN, Berrettini WH (1996) Maternal inheritance and chromosome 18 allele sharing in unilineal bipolar illness pedigrees. Am J Med Genet 67: 202-207.
8. Lin JP, Bale SJ (1997) Parental transmission and D18S37 allele sharing in bipolar affective disorder. Genet Epidemiol 14: 665-668.
9. Kato T, Winokur G, Coryell W, Rice J, Endicott J, et al. (1998) Failure to demonstrate parent-of-origin effect in transmission of bipolar II disorder. J Affect Disord 50: 135-141.
10. Grigoroiu-Serbanescu M, Martinez M, Nothen MM, Grinberg M, Sima D, et al. (2001) Different familial transmission patterns in bipolar I disorder with onset before and after age 25. Am J Med Genet 105: 765-773.
11. Grigoroiu-Serbanescu M, Martinez M, Nothen MM, Propping P, Milea S, et al. (1998) Patterns of parental transmission and familial aggregation models in bipolar affective disorder. Am J Med Genet 81: 397-404.
12. DeLisi LE, Razi K, Stewart J, Relja M, Shields G, et al. (2000) No evidence for a parent-of-origin effect detected in the pattern of inheritance of schizophrenia. Biol Psychiatry 48: 706-709.
13. Kornberg JR, Brown JL, Sadovnick AD, Remick RA, Keck PE Jr, et al. (2000) Evaluating the parent-of-origin effect in bipolar affective disorder. Is a more penetrant subtype transmitted paternally? J Affect Disord 59: 183-192.
14. Shoffner JM, Wallace D (1995) Oxidative phosphorylation diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edition, vol. I. New York: McGraw-Hill. pp 1535-1609.
15. 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.
16. Horton TM, Graham BH, Corral-Debrinski M, Shoffner JM, Kaufman AE, et al. (1995) Marked increase in mitochondrial DNA deletion levels in the cerebral cortex of Huntington's disease patients. Neurology 45: 1879-1883.
17. Fan H, Civalier C, Booker JK, Gulley ML, Prior TW, et al. (2006) Detection of common disease-causing mutations in mitochondrial DNA (mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes MTTL1 3243 A>G and myoclonic epilepsy associated with ragged-red fibers MTTK 8344A>G) by real-time polymerase chain reaction. J Mol Diagn 8: 277-281.
18. Fan W, Waymire KG, Narula N, Li P, Rocher C, et al. (2008) A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations. Science 319: 958-962.
19. Wallace DC (1992) Diseases of the mitochondrial DNA. Annual Review of Biochemistry 61: 1175-1212.
20. Kato T (2001) The other, forgotten genome: mitochondrial DNA and mental disorders. Mol Psychiatry 6: 625-633.
21. Jazin EE, Cavelier L, Eriksson I, Oreland L, Gyllensten U (1996) Human brain contains high levels of heteroplasmy in the noncoding regions of mitochondrial DNA. Proc Natl Acad Sci U S A 93: 12382-12387.
22. Cavelier L, Jazin E, Jalonen P, Gyllensten U (2000) MtDNA substitution rate and segregation of heteroplasmy in coding and noncoding regions. Hum Genet 107: 45-50.
23. Jazin E, Soodyall H, Jalonen P, Lindholm E, Stoneking M, et al. (1998) Mitochondrial mutation rate revisited: hot spots and polymorphism. Nat Genet 18: 109-110.
24. Lindholm E, Cavelier L, Howell WM, Eriksson I, Jalonen P, et al. (1997) Mitochondrial sequence variants in patients with schizophrenia. Eur J Hum Genet 5: 406-412.
25. Cavelier L, Jazin EE, Eriksson I, Prince J, Bave U, et al. (1995) Decreased cytochrome-c oxidase activity and lack of age-related accumulation of mitochondrial DNA deletions in the brains of schizophrenics. Genomics 29: 217-224.
26. Coskun PE, Beal MF, Wallace DC (2004) Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication. Proc Natl Acad Sci U S A 101: 10726-10731.
27. Corral-Debrinski M, Horton T, Lott MT, Shoffner JM, McKee AC, et al. (1994) Marked changes in mitochondrial DNA deletion levels in Alzheimer brains. Genomics 23: 471-476.
28. Fattal O, Budur K, Vaughan AJ, Franco K (2006) Review of the literature on major mental disorders in adult patients with mitochondrial diseases. Psychosomatics 47: 1-7.
29. Fattal O, Link J, Quinn K, Cohen BH, Franco K (2007) Psychiatric comorbidity in 36 adults with mitochondrial cytopathies. CNS Spectr 12: 429-438.
30. DiMauro S, Moraes CT (1993) Mitochondrial encephalomyopathies. Archives of Neurology 50: 1197-1208.
31. Gardner A, Johansson A, Wibom R, Nennesmo I, von Dobeln U, et al. (2003) Alterations of mitochondrial function and correlations with personality traits in selected major depressive disorder patients. J Affect Disord 76: 55-68.
32. Gardner A, Boles RG (2008) Symptoms of somatization as a rapid screening tool for mitochondrial dysfunction in depression. Biopsychosoc Med 2: 7.
33. Gardner A, Boles RG (2008) Mitochondrial energy depletion in depression with somatization. Psychother Psychosom 77: 127-129.
34. Burnett BB, Gardner A, Boles RG (2005) Mitochondrial inheritance in depression, dysmotility and migraine? J Affect Disord 88: 109-116.
35. 1H magnetic resonance spectroscopy in patients with schizophrenia: a systematic review and meta-analysis. Neuropsychopharmacology 30: 1949-1962.
36. Buchsbaum MS, Hazlett EA (1998) Positron emission tomography studies of abnormal glucose metabolism in schizophrenia. Schizophr Bull 24: 343-364.
37. Volz HP, Rzanny R, May S, Hegewald H, Preussler B, et al. (1997) 31P magnetic resonance spectroscopy in the dorsolateral prefrontal cortex of schizophrenics with a volume selective technique-preliminary findings. Biol Psychiatry 41: 644-648.
38. Kegeles LS, Humaran TJ, Mann JJ (1998) In vivo neurochemistry of the brain in schizophrenia as revealed by magnetic resonance spectroscopy. Biol Psychiatry 44: 382-398.
39. Yildiz-Yesiloglu A, Ankerst DP (2006) Neurochemical alterations of the brain in bipolar disorder and their implications for pathophysicology: A systematic review of the in vivo proton magnetic resonance spectroscopy findings. Prog Neuropsychopharmacol Biol Psychiatry 30: 969-995.
40. Strakowski SM, DelBello MP, Adler C, Cecil KM, Sax KW (2000) Neuroimaging in bipolar disorder. Bipolar Disord 2: 148-164.
41. Deicken RF, Fein G, Weiner MW (1995) Abnormal frontal lobe phosphorous metabolism in bipolar disorder. Am J Psychiatry 152: 915-918.
42. Hamakawa H, Kato T, Shioiri T, Inubushi T, Kato N (1999) Quantitative proton magnetic resonance spectroscopy of the bilateral frontal lobes in patients with bipolar disorder. Psychol Med 29: 639-644.
43. Videbech P (2000) PET measurements of brain glucose metabolism and blood flow in major depressive disorder: a critical review. Acta Psychiatr Scand 101: 11-20.
44. McMahon FJ, Chen YS, Patel S, Kokoszka J, Brown MD, et al. (2000) Mitochondrial DNA sequence diversity in bipolar affective disorder. Am J Psychiatry 157: 1058-1064.
45. Iwamoto K, Bundo M, Kato T (2005) Altered expression of mitochondria-related genes in postmortem brains of patients with bipolar disorder or schizophrenia, as revealed by large-scale DNA microarray analysis. Hum Mol Genet 14: 241-253.
46. Kato T, Kakiuchi C, Iwamoto K (2007) Comprehensive gene expression analysis in bipolar disorder. Can J Psychiatry 52: 763-771.
47. Kato T (2008) Role of mitochondrial DNA in calcium signaling abnormality in bipolar disorder. Cell Calcium 44: 92-102.
48. Munakata K, Fujii K, Nanko S, Kunugi H, Kato T (2007) Sequence and functional analyses of mtDNA in a maternally inherited family with bipolar disorder and depression. Mutat Res 617: 119-124.
49. Kato T (2006) The role of mitochondrial dysfunction in bipolar disorder. Drug News Perspect 19: 597-602.
50. Washizuka S, Kakiuchi C, Mori K, Tajima O, Akiyama T, et al. (2005) Expression of mitochondria-related genes in lymphoblastoid cells from patients with bipolar disorder. Bipolar Disord 7: 146-152.
51. Munakata K, Iwamoto K, Bundo M, Kato T (2005) Mitochondrial DNA 3243A>G mutation and increased expression of LARS2 gene in the brains of patients with bipolar disorder and schizophrenia. Biol Psychiatry 57: 525-532.
52. Munakata K, Tanaka M, Mori K, Washizuka S, Yoneda M, et al. (2004) Mitochondrial DNA 3644T-.C mutation associated with bipolar disorder. Genomics 84: 1041-1050.
53. Washizuka S, Kametani M, Sasaki T, Tochigi M, Umekage T, et al. (2006) Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with schizophrenia in the Japanese population. Am J Med Genet B Neuropsychiatr Genet 141: 301-304.
54. Kakiuchi C, Ishiwata M, Kametani M, Nelson C, Iwamoto K, et al. (2005) Quantitative analysis of mitochondrial DNA deletions in the brains of patients with bipolar disorder and schizophrenia. Int J Neuropsychopharmacol 8: 515-522.
55. Kato T, Takahashi Y (1996) Deletion of leukocyte mitochondrial DNA in bipolar disorder. J Affect Disord 37: 67-73.
56. Kato T, Stine OC, McMahon FJ, Crowe RR (1997) Increased levels of a mitochondrial DNA deletion in the brain of patients with bipolar disorder. Biol Psychiatry 42: 871-875.
57. Washizuka S, Kakiuchi C, Mori K, Kunugi H, Tajima O, et al. (2003) Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder. Am J Med Genet B Neuropsychiatr Genet 120: 72-78.
58. Bamne MN, Talkowski ME, Moraes CT, Manuck SB, Ferrell RE, et al. (2008) Systematic Association Studies of Mitochondrial DNA Variations in Schizophrenia: Focus on the ND5 Gene. Schizophr Bull 34: 458-465.
59. Martorell L, Segues T, Folch G, Valero J, Joven J, et al. (2006) New variants in the mitochondrial genomes of schizophrenic patients. Eur J Hum Genet 14: 520-528.
60. Marchbanks RM, Ryan M, Day IN, Owen M, McGuffin P, et al. (2003) A mitochondrial DNA sequence variant associated with schizophrenia and oxidative stress. Schizophr Res 65: 33-38.
61. Washizuka S, Ikeda A, Kato N, Kato T (2003) Possible relationship between mitochondrial DNA polymorphisms and lithium response in bipolar disorder. Int J Neuropsychopharmacol 6: 421-424.
62. Kazuno AA, Munakata K, Nagai T, Shimozono S, Tanaka M, et al. (2006) Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics. PLoS Genet 2: e128.
63. Kazuno AA, Munakata K, Mori K, Tanaka M, Nanko S, et al. (2005) Mitochondrial DNA sequence analysis of patients with 'atypical psychosis'. Psychiatry Clin Neurosci 59: 497-503.
64. Amar S, Shamir A, Ovadia O, Blanaru M, Reshef A, et al. (2007) Mitochondrial DNA HV lineage increases the susceptibility to schizophrenia among Israeli Arabs. Schizophr Res 94: 354-358.
65. Coon KD, Valla J, Szelinger S, Schneider LE, Niedzielko TL, et al. (2006) Quantitation of heteroplasmy of mtDNA sequence variants identified in a population of AD patients and controls by array-based resequencing. Mitochondrion 6: 194-210.
66. Mexal S, Berger R, Adams C, Ross R, Freedman R, et al. (2006) Brain pH has a significant impact on human postmortem hippocampal gene expression profiles. Brain Res 1106: 1-11.
67. Vawter MP, Tomita H, Meng F, Bolstad B, Li J, et al. (2006) Mitochondrial-related gene expression changes are sensitive to agonal-pH state: implications for brain disorders. Mol Psychiatry 11: 615, 663-679.
68. Kato T, Kato N (2000) Mitochondrial dysfunction in bipolar disorder. Bipolar Disord 2: 180-190.
69. Hartmann A, Thieme M, Nanduri LK, Stempfl T, Moehle C, et al. (2008) Validation of microarray-based resequencing of 93 worldwide mitochondrial genomes. Hum Mutat 30: 115-122.
70. Jakupciak JP, Maggrah A, Maragh S, Maki J, Reguley B, et al. (2008) Facile whole mitochondrial genome resequencing from nipple aspirate fluid using MitoChip v2.0. BMC Cancer 8: 95.
71. Zhou S, Kassauei K, Cutler DJ, Kennedy GC, Sidransky D, et al. (2006) An oligonucleotide microarray for high-throughput sequencing of the mitochondrial genome. J Mol Diagn 8: 476-482.
72. Jakupciak JP, Wang W, Markowitz ME, Ally D, Coble M, et al. (2005) Mitochondrial DNA as a cancer biomarker. J Mol Diagn 7: 258-267.
73. Jacobs L, Gerards M, Chinnery P, Dumoulin J, de Coo I, et al. (2007) mtDNA point mutations are present at various levels of heteroplasmy in human oocytes. Mol Hum Reprod 13: 149-154.
74. Leveque M, Marlin S, Jonard L, Procaccio V, Reynier P, et al. (2007) Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip. Eur J Hum Genet 15: 1145-1155.
75. Maitra A, Cohen Y, Gillespie SE, Mambo E, Fukushima N, et al. (2004) The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection. Genome Res 14: 812-819.
76. Huelsenbeck JP, Ronquist F (2001) MRBAYES: Bayesian inference of phylogenetic trees. Bioinformatics 17: 754-755.
77. Huelsenbeck JP, Ronquist F, Nielsen R, Bollback JP (2001) Bayesian inference of phylogeny and its impact on evolutionary biology. Science 294: 2310-2314.
78. Howell N, Elson JL, Turnbull DM, Herrnstadt C (2004) African Haplogroup L mtDNA sequences show violations of clock-like evolution. Mol Biol Evol 21: 1843-1854.
79. Purcell S, Neale B, Todd-Brown K, Thomas L, Ferreira MA, et al. (2007) PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet 81: 559-575.
80. Ingman M, Gyllensten U (2006) mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences. Nucleic Acids Res 34: D749-751.
81. Bannwarth S, Procaccio V, Paquis-Flucklinger V (2005) Surveyor Nuclease: a new strategy for a rapid identification of heteroplasmic mitochondrial DNA mutations in patients with respiratory chain defects. Hum Mutat 25: 575-582.
82. Bannwarth S, Procaccio V, Paquis-Flucklinger V (2006) Rapid identification of unknown heteroplasmic mutations across the entire human mitochondrial genome with mismatch-specific Surveyor Nuclease. Nat Protoc 1: 2037-2047.
83. King MP, Attardi G (1989) Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation. Science 246: 500-503.
84. Tamura K, Dudley J, Nei M, Kumar S (2007) MEGA4: Molecular Evolutionary Genetics Analysis (MEGA) software version 4.0. Mol Biol Evol 24: 1596-1599.
85. Nei M, Gojobori T (1986) Simple methods for estimating the numbers of synonymous and nonsynonymous nucleotide substitutions. Mol Biol Evol 3: 418-426.
86. Maragh S, Jakupciak JP, Wagner PD, Rom WN, Sidransky D, et al. (2008) Multiple strand displacement amplification of mitochondrial DNA from clinical samples. BMC Med Genet 9: 7.
87. Lin MT, Simon DK, Ahn CH, Kim LM, Beal MF (2002) High aggregate burden of somatic mtDNA point mutations in aging and Alzheimer's disease brain. Hum Mol Genet 11: 133-145.
88. Davidzon G, Greene P, Mancuso M, Klos KJ, Ahlskog JE, et al. (2006) Early-onset familial parkinsonism due to POLG mutations. Ann Neurol 59: 859-862.
89. Luoma PT, Eerola J, Ahola S, Hakonen AH, Hellstrom O, et al. (2007) Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease. Neurology 69: 1152-1159.
90. Stewart JB, Freyer C, Elson JL, Wredenberg A, Cansu Z, et al. (2008) Strong purifying selection in transmission of mammalian mitochondrial DNA. PLoS Biol 6: e10.
91. Pyle A, Foltynie T, Tiangyou W, Lambert C, Keers SM, et al. (2005) Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD. Ann Neurol 57: 564-567.
92. Gibson GE, Ratan RR, Beal MF (2008) Mitochondria and oxidative stress in neurodegenerative disorders. Preface. Ann N Y Acad Sci 1147: xi-xii.
93. Shao L, Martin MV, Watson SJ, Schatzberg A, Akil H, et al. (2008) Mitochondrial involvement in psychiatric disorders. Ann Med 40: 281-295.
94. Ben-Shachar D, Karry R (2008) Neuroanatomical pattern of mitochondrial complex I pathology varies between schizophrenia, bipolar disorder and major depression. PLoS ONE 3: e3676.
95. Balijepalli S, Boyd MR, Ravindranath V (1999) Inhibition of mitochondrial complex I by haloperidol: the role of thiol oxidation. Neuropharmacology 38: 567-577.
96. Whatley SA, Curti D, Das Gupta F, Ferrier IN, Jones S, et al. (1998) Superoxide, neuroleptics and the ubiquinone and cytochrome b5 reductases in brain and lymphocytes from normals and schizophrenic patients. Mol Psychiatry 3: 227-237.
97. Droge W, Schipper HM (2007) Oxidative stress and aberrant signaling in aging and cognitive decline. Aging Cell 6: 361-370.
98. Wester P, Bateman DE, Dodd PR, Edwardson JA, Hardy JA, et al. (1985) Agonal status affects the metabolic activity of nerve endings isolated from postmortem human brain. Neurochem Pathol 3: 169-180.
99. Barton AJ, Pearson RC, Najlerahim A, Harrison PJ (1993) Pre- and postmortem influences on brain RNA. J Neurochem 61: 1-11.
100. Johnston NL, Cervenak J, Shore AD, Torrey EF, Yolken RH (1997) Multivariate analysis of RNA levels from postmortem human brains as measured by three different methods of RT-PCR. Stanley Neuropathology Consortium. J Neurosci Methods 77: 83-92.
101. Harrison PJ, Procter AW, Barton AJ, Lowe SL, Najlerahim A, et al. (1991) Terminal coma affects messenger RNA detection in post mortem human temporal cortex. Brain Res Mol Brain Res 9: 161-164.
102. Vawter MP, Evans S, Choudary P, Tomita H, Meador-Woodruff J, et al. (2004) Gender-specific gene expression in post-mortem human brain: localization to sex chromosomes. Neuropsychopharmacology 29: 373-384.
103. Mishmar D, Ruiz-Pesini EE, Golik P, Macaulay V, Clark AG, et al. (2003) Natural selection shaped regional mtDNA variation in humans. Proc Natl Acad Sci U S A 100: 171-176.
104. Brandon MC, Ruiz-Pesini E, Mishmar D, Procaccio V, Lott MT, et al. (2008) MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences. Hum Mutat 30: 1-6.
105. Ruiz-Pesini E, Lott MT, Procaccio V, Poole JC, Brandon MC, et al. (2007) An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res 35: D823-828.
106. Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, et al. (1999) Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 23: 147.
107. Strand H, Ingebretsen OC, Nilssen O (2008) Real-time detection and quantification of mitochondrial mutations with oligonucleotide primers containing locked nucleic acid. Clin Chim Acta 390: 126-133.
108. Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, et al. (1989) Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 17: 2503-2516.
109. Ruiz-Pesini E, Mishmar D, Brandon M, Procaccio V, Wallace DC (2004) Effects of purifying and adaptive selection on regional variation in human mtDNA. Science 303: 223-226.