Mitochondrial DNA sequence diversity in bipolar affective disorder

American Journal of Psychiatry

Volumn 157, Issue 7, 2000, Pages 1058-1064

  McMahon, Francis J ^a   Chen, Yu Sheng ^b   Patel, Satyakam ^b   Kokoszka, Jason ^b   Brown, Michael D ^b   Torroni, Antonio ^b   DePaulo, J Raymond ^b   Wallace, Douglas C ^b  

^a UNIVERSITY OF CHICAGO   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CLINICAL ARTICLE; DNA SEQUENCE; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; MANIC DEPRESSIVE PSYCHOSIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SCHIZOIDISM; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; BIPOLAR DISORDER; CASE-CONTROL STUDIES; CHILD; DNA, MITOCHONDRIAL; FEMALE; GENETIC MARKERS; HAPLOTYPES; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; VARIATION (GENETICS); X CHROMOSOME;

EID: 0343517758     PISSN: 0002953X     EISSN: None     Source Type: Journal    
DOI: 10.1176/appi.ajp.157.7.1058     Document Type: Article

References (35)

1. McMahon FJ, DePaulo JR: Affective Disorders, in Principles of Molecular Medicine. Edited by Jamison JL. Totawa, NJ. Humana Press, 1998, pp 995-1003
2. Gershon ES, Hamovit J, Guroff JJ, Nurnberger JI, Goldin LR, Bunney WE: A family study of schizoaffective, bipolar I, bipolar II, unipolar and normal control probands. Arch Gen Psychiatry 1982; 39:1157-1167
3. Risch N: Linkage strategies for genetically complex traits. Am J Hum Genet 1990; 46:229-241
4. McMahon FJ, Stine OC, Meyers DA, Simpson SG, DePaulo JR: Patterns of maternal transmission in bipolar affective disorder. Am J Hum Genet 1995; 56:1277-1286
5. Gershon ES, Badner JA, Berrettini WH: Maternal inheritance and chromosome 18 allele sharing in unilineal bipolar pedigrees. Am J Med Genet 1996; 67:202-207
6. Lin JP, Bale SJ: Parental transmission and D18S37 allele sharing in bipolar affective disorder. Genet Epidemiol 1997; 14:665-668
7. Kato T, Winokur G, Coryell W, Keller M, Endicott J, Rice J: Parent-of-origin effect in transmission of bipolar disorder. Biol Psychiatry 1996; 67:546-550
8. Grigoroiu-Serbanescu M, Martinez M, Nothen M, Propping P, Milea S, Mihailescu R, Marinescu E: Patterns of parental transmission and familial aggregation models in bipolar affective disorder. Am J Med Genet 1998; 81:397-404
9. Wallace DC, Brown MD, Lott MT: Mitochondrial genetics, in Principles and Practice of Medical Genetics, 3rd ed. Edited by Rimoin DL, Connor JM, Pyeritz RE. New York, Churchill & Livingstone, 1996, pp 277-332
10. Simpson SG, Folstein SE, Meyers DA, DePaulo JR: Assessment of lineality in bipolar I linkage studies. Am J Psychiatry 1992; 149: 1660-1665
11. Endicott J, Spitzer RL: A diagnostic interview: the Schedule for Affective Disorders and Schizophrenia. Arch Gen Psychiatry 1978; 35:837-844
12. Spitzer RL, Endicott J, Robins E: Research Diagnostic Criteria (RDC) for a Selected Group of Functional Disorders, 2nd ed. New York, New York State Psychiatric Institute, Biometrics Research, 1975
13. Stine OC, Xu J, Koskela R, McMahon FJ, Geschwend M, Friddle C, Clark CD, McInnis MG, Simpson SG, Breschel TS, Vishio E, Riskin K, Feilotter H. Chen E, Chen S, Folstein SE, Meyers DA, Botstein D, Marr TG, DePaulo JR: Evidence for linkage of bipolar disorder to chromosome 18 with a parent-of-origin effect. Am J Hum Genet 1995; 57:1384-1394
14. McMahon FJ, Stine OC, Chase GA, Meyers DA, Simpson SG, De-Paulo JR Jr: Influence of clinical subtype, sex, and lineality on age at onset of major affective disorder in a family sample. Am J Psychiatry 1994; 151:210-215
15. Torroni A, Lott MT, Cabell MF, Chen YS, Lavergne L, Wallace DC: MtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am J Hum Genet 1994; 55:760-776
16. Torroni A, Huoponen K, Francalacci P, Petrozzi M, Morelli L, Scozzari R. Obinu D, Savontaus M-L, Wallace D: Classification of European mtDNAs from an analysis of three European populations. Genetics 1996; 144:1835-1850
17. Anderson S, Bankier AT, Barrell BG, de Bruijn MHL, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJH, Staden R, Young IG: Sequence and organization of the human mitochondrial genome. Nature 1981; 290:457-465
18. Schlesselman JJ: Case-Control Studies. New York, Oxford University Press, 1982
19. Torroni A, Bandelt H-J, D'Urbano L, Lahermo P, Moral P, Selitto D, Rengo C, Forster P, Savontaus M-J, Bonne-Tamir B, Scozzari R: MtDNA analysis reveals a major late Paleolithic population expansion from Southwestern to Northeastern Europe. Am J Hum Genet 1998; 62:1137-1152
20. Howell N, McCullough DA, Kubacka I, Halvorson S, Mackey D: The sequence of human mtDNA: the question of errors versus polymorphisms. Am J Hum Genet 1992; 50:1333-1340
21. Howell N, Kubacka I, Halvorson S, Howell B, McCullough DA, Mackey D: Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees. Genetics 1995; 140:285-302
22. Prezant TR, Agapian JV, Fischel-Ghodsian N: Corrections to the human mitochondrial ribosomal RNA sequences. Hum Genet 1994;93:87-88
23. Lertrit P, Kapsa R, Jean-Francois M, Thyagarajan D, Noer A, Marzuki S, Byrne E: Mitochondrial DNA polymorphism in disease: a possible contributor to respiratory dysfunction. Hum Mol Genet 1994; 3:1973-1981
24. Marzuki S, Noer A, Lertrit P, Thyagarajan D, Kapsa R, Utthanaphol P, Byrne E: Normal variants of human mitochondrial DNA and translation products: the building of a reference data base. Hum Genet 1991; 88:139-145
25. Suomalainen A, Majander A, Haltia M, Somer H, Lonnqvist J, Savontaus M, Peltonen L: Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia. J Clin Invest 1992; 90:61-66
26. Stewart J, Naylor G: Manic-depressive psychosis in a patient with mitochondrial myopathy - a case report. Med Sci Res 1990; 18:265-266
27. Suzuki T, Koizumi J, Ofuku K, Sasaki M, Hori T, Oskoshi N: Psychiatric disturbance in mitochondrial encephalomyelopathy. J Neurol Neurosurg Psychiatry 1989; 52:920-922
28. Leu (UUR) mutation. Biol Psychiatry 1999; 41: 1137-1139
29. Stine OC, Luu S, Zito M, Casanova M: The possible association between affective disorder and partially deleted mitochondrial DNA. Biol Psychiatry 1993; 33:141-142
30. Kato T, Takahashi Y: Deletion of leukocyte mitochondrial DNA in bipolar disorder. J Affect Disord 1996; 37:67-73
31. Kato T, Takahashi S, Shioiri T, Murashita J, Hamakawa H, Inubushi T: Reduction of brain phosphocreatine in bipolar II disorder detected by phosphorus-31 magnetic resonance spectroscopy. J Affect Disord 1994; 31:125-133
32. Kirk R, Furlong R, Amos W, Cooper G, Rubinsztein J, Walsh C, Paykel ES, Rubinsztein DC: Mitochondrial genetic analyses suggest selection against maternal lineages in bipolar affective disorder. Am J Hum Genet 1999; 65:508-518
33. Clark A, Weiss K, Nickerson D, Taylor S, Buchanan A, Stengard J, Salomaa V, Vartiainen E, Perola M, Boerwinkle E, Sing C: Haplo-type structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase. Am J Hum Genet 1998; 63:595-612
34. Rieder M, Taylor S, Clark A, Nickerson D: Sequence variation in the human angiotensin converting enzyme. Nat Genet 1999; 22:59-62
35. Schork N, Cardon L, Xu X: The future of genetic epidemiology. Trends Genet 1998; 14:266-273