Mitochondrial Variants in Schizophrenia, Bipolar Disorder, and Major Depressive Disorder
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RE Giles, 1980, Maternal inheritance of human mitochondrial DNA., Proc Natl Acad Sci U S A, 77, 6715, 10.1073/pnas.77.11.6715
II Gottesman, 1991, Confirming unexpressed genotypes for schizophrenia. Risks in the offspring of Fischer's Danish identical and fraternal disocordant twins., Arch Gen Psychiatry, 46, 867, 10.1001/archpsyc.1989.01810100009002
JM Goldstein, 1992, Gender and the familial risk for schizophrenia. Disentangling confounding factors., Schizophr Res, 7, 135, 10.1016/0920-9964(92)90043-5
PS Wolyniec, 1992, Schizophrenia: gender and familial risk., J Psychiatr Res, 26, 17, 10.1016/0022-3956(92)90012-D
A Shimizu, 1987, Morbidity risk of schizophrenia to parents and siblings of schizophrenic patients., Jpn J Psychiatry Neurol, 41, 65
FJ McMahon, 1995, Patterns of maternal transmission in bipolar affective disorder., Am J Hum Genet, 56, 1277
ES Gershon, 1996, Maternal inheritance and chromosome 18 allele sharing in unilineal bipolar illness pedigrees., Am J Med Genet, 67, 202, 10.1002/(SICI)1096-8628(19960409)67:2<202::AID-AJMG11>3.0.CO;2-N
JP Lin, 1997, Parental transmission and D18S37 allele sharing in bipolar affective disorder., Genet Epidemiol, 14, 665, 10.1002/(SICI)1098-2272(1997)14:6<665::AID-GEPI19>3.0.CO;2-O
T Kato, 1998, Failure to demonstrate parent-of-origin effect in transmission of bipolar II disorder., J Affect Disord, 50, 135, 10.1016/S0165-0327(97)00102-X
M Grigoroiu-Serbanescu, 2001, Different familial transmission patterns in bipolar I disorder with onset before and after age 25., Am J Med Genet, 105, 765, 10.1002/ajmg.10047
M Grigoroiu-Serbanescu, 1998, Patterns of parental transmission and familial aggregation models in bipolar affective disorder., Am J Med Genet, 81, 397, 10.1002/(SICI)1096-8628(19980907)81:5<397::AID-AJMG8>3.0.CO;2-Q
LE DeLisi, 2000, No evidence for a parent-of-origin effect detected in the pattern of inheritance of schizophrenia., Biol Psychiatry, 48, 706, 10.1016/S0006-3223(00)00939-2
JR Kornberg, 2000, Evaluating the parent-of-origin effect in bipolar affective disorder. Is a more penetrant subtype transmitted paternally?, J Affect Disord, 59, 183, 10.1016/S0165-0327(99)00151-2
JM Shoffner, 1995, Oxidative phosphorylation diseases., 1535
DC Wallace, 2005, A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine., Annu Rev Genet, 39, 359, 10.1146/annurev.genet.39.110304.095751
TM Horton, 1995, Marked increase in mitochondrial DNA deletion levels in the cerebral cortex of Huntington's disease patients., Neurology, 45, 1879, 10.1212/WNL.45.10.1879
H Fan, 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, 10.2353/jmoldx.2006.050066
W Fan, 2008, A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations., Science, 319, 958, 10.1126/science.1147786
DC Wallace, 1992, Diseases of the mitochondrial DNA., Annual Review of Biochemistry, 61, 1175, 10.1146/annurev.bi.61.070192.005523
T Kato, 2001, The other, forgotten genome: mitochondrial DNA and mental disorders., Mol Psychiatry, 6, 625, 10.1038/sj.mp.4000926
EE Jazin, 1996, Human brain contains high levels of heteroplasmy in the noncoding regions of mitochondrial DNA., Proc Natl Acad Sci U S A, 93, 12382, 10.1073/pnas.93.22.12382
L Cavelier, 2000, MtDNA substitution rate and segregation of heteroplasmy in coding and noncoding regions., Hum Genet, 107, 45, 10.1007/s004390000305
E Jazin, 1998, Mitochondrial mutation rate revisited: hot spots and polymorphism., Nat Genet, 18, 109, 10.1038/ng0298-109
E Lindholm, 1997, Mitochondrial sequence variants in patients with schizophrenia., Eur J Hum Genet, 5, 406, 10.1159/000484799
L Cavelier, 1995, Decreased cytochrome-c oxidase activity and lack of age-related accumulation of mitochondrial DNA deletions in the brains of schizophrenics., Genomics, 29, 217, 10.1006/geno.1995.1234
PE Coskun, 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, 10.1073/pnas.0403649101
M Corral-Debrinski, 1994, Marked changes in mitochondrial DNA deletion levels in Alzheimer brains., Genomics, 23, 471, 10.1006/geno.1994.1525
O Fattal, 2006, Review of the literature on major mental disorders in adult patients with mitochondrial diseases., Psychosomatics, 47, 1, 10.1176/appi.psy.47.1.1
O Fattal, 2007, Psychiatric comorbidity in 36 adults with mitochondrial cytopathies., CNS Spectr, 12, 429, 10.1017/S1092852900015303
S DiMauro, 1993, Mitochondrial encephalomyopathies., Archives of Neurology, 50, 1197, 10.1001/archneur.1993.00540110075008
A Gardner, 2003, Alterations of mitochondrial function and correlations with personality traits in selected major depressive disorder patients., J Affect Disord, 76, 55, 10.1016/S0165-0327(02)00067-8
A Gardner, 2008, Symptoms of somatization as a rapid screening tool for mitochondrial dysfunction in depression., Biopsychosoc Med, 2, 7, 10.1186/1751-0759-2-7
A Gardner, 2008, Mitochondrial energy depletion in depression with somatization., Psychother Psychosom, 77, 127, 10.1159/000112891
BB Burnett, 2005, Mitochondrial inheritance in depression, dysmotility and migraine?, J Affect Disord, 88, 109, 10.1016/j.jad.2005.05.009
RG Steen, 2005, Measurement of brain metabolites by <sup>1</sup>H magnetic resonance spectroscopy in patients with schizophrenia: a systematic review and meta-analysis., Neuropsychopharmacology, 30, 1949, 10.1038/sj.npp.1300850
MS Buchsbaum, 1998, Positron emission tomography studies of abnormal glucose metabolism in schizophrenia., Schizophr Bull, 24, 343, 10.1093/oxfordjournals.schbul.a033331
HP Volz, 1997, 31P magnetic resonance spectroscopy in the dorsolateral prefrontal cortex of schizophrenics with a volume selective technique–preliminary findings., Biol Psychiatry, 41, 644, 10.1016/S0006-3223(96)00062-5
LS Kegeles, 1998, In vivo neurochemistry of the brain in schizophrenia as revealed by magnetic resonance spectroscopy., Biol Psychiatry, 44, 382, 10.1016/S0006-3223(97)00425-3
A Yildiz-Yesiloglu, 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, 10.1016/j.pnpbp.2006.03.012
SM Strakowski, 2000, Neuroimaging in bipolar disorder., Bipolar Disord, 2, 148, 10.1034/j.1399-5618.2000.020302.x
RF Deicken, 1995, Abnormal frontal lobe phosphorous metabolism in bipolar disorder., Am J Psychiatry, 152, 915, 10.1176/ajp.152.6.915
H Hamakawa, 1999, Quantitative proton magnetic resonance spectroscopy of the bilateral frontal lobes in patients with bipolar disorder., Psychol Med, 29, 639, 10.1017/S0033291799008442
P Videbech, 2000, PET measurements of brain glucose metabolism and blood flow in major depressive disorder: a critical review., Acta Psychiatr Scand, 101, 11, 10.1034/j.1600-0447.2000.101001011.x
FJ McMahon, 2000, Mitochondrial DNA sequence diversity in bipolar affective disorder., Am J Psychiatry, 157, 1058, 10.1176/appi.ajp.157.7.1058
K Iwamoto, 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, 10.1093/hmg/ddi022
T Kato, 2007, Comprehensive gene expression analysis in bipolar disorder., Can J Psychiatry, 52, 763, 10.1177/070674370705201203
T Kato, 2008, Role of mitochondrial DNA in calcium signaling abnormality in bipolar disorder., Cell Calcium, 44, 92, 10.1016/j.ceca.2007.11.005
K Munakata, 2007, Sequence and functional analyses of mtDNA in a maternally inherited family with bipolar disorder and depression., Mutat Res, 617, 119, 10.1016/j.mrfmmm.2007.01.006
T Kato, 2006, The role of mitochondrial dysfunction in bipolar disorder., Drug News Perspect, 19, 597, 10.1358/dnp.2006.19.10.1068006
S Washizuka, 2005, Expression of mitochondria-related genes in lymphoblastoid cells from patients with bipolar disorder., Bipolar Disord, 7, 146, 10.1111/j.1399-5618.2005.00184.x
K Munakata, 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, 10.1016/j.biopsych.2004.11.041
K Munakata, 2004, Mitochondrial DNA 3644T–>C mutation associated with bipolar disorder., Genomics, 84, 1041, 10.1016/j.ygeno.2004.08.015
S Washizuka, 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, 10.1002/ajmg.b.30285
C Kakiuchi, 2005, Quantitative analysis of mitochondrial DNA deletions in the brains of patients with bipolar disorder and schizophrenia., Int J Neuropsychopharmacol, 8, 515, 10.1017/S1461145705005213
T Kato, 1996, Deletion of leukocyte mitochondrial DNA in bipolar disorder., J Affect Disord, 37, 67, 10.1016/0165-0327(95)00050-X
T Kato, 1997, Increased levels of a mitochondrial DNA deletion in the brain of patients with bipolar disorder., Biol Psychiatry, 42, 871, 10.1016/S0006-3223(97)00012-7
S Washizuka, 2003, Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder., Am J Med Genet B Neuropsychiatr Genet, 120, 72, 10.1002/ajmg.b.20041
MN Bamne, 2008, Systematic Association Studies of Mitochondrial DNA Variations in Schizophrenia: Focus on the ND5 Gene., Schizophr Bull, 34, 458, 10.1093/schbul/sbm100
L Martorell, 2006, New variants in the mitochondrial genomes of schizophrenic patients., Eur J Hum Genet, 14, 520, 10.1038/sj.ejhg.5201606
RM Marchbanks, 2003, A mitochondrial DNA sequence variant associated with schizophrenia and oxidative stress., Schizophr Res, 65, 33, 10.1016/S0920-9964(03)00011-2
S Washizuka, 2003, Possible relationship between mitochondrial DNA polymorphisms and lithium response in bipolar disorder., Int J Neuropsychopharmacol, 6, 421, 10.1017/S1461145703003778
AA Kazuno, 2006, Identification of mitochondrial DNA polymorphisms that alter mitochondrial matrix pH and intracellular calcium dynamics., PLoS Genet, 2, e128, 10.1371/journal.pgen.0020128
AA Kazuno, 2005, Mitochondrial DNA sequence analysis of patients with ‘atypical psychosis’., Psychiatry Clin Neurosci, 59, 497, 10.1111/j.1440-1819.2005.01404.x
S Amar, 2007, Mitochondrial DNA HV lineage increases the susceptibility to schizophrenia among Israeli Arabs., Schizophr Res, 94, 354, 10.1016/j.schres.2007.04.020
KD Coon, 2006, Quantitation of heteroplasmy of mtDNA sequence variants identified in a population of AD patients and controls by array-based resequencing., Mitochondrion, 6, 194, 10.1016/j.mito.2006.07.002
S Mexal, 2006, Brain pH has a significant impact on human postmortem hippocampal gene expression profiles., Brain Res, 1106, 1, 10.1016/j.brainres.2006.05.043
MP Vawter, 2006, Mitochondrial-related gene expression changes are sensitive to agonal-pH state: implications for brain disorders., Mol Psychiatry, 11, 615, 663
T Kato, 2000, Mitochondrial dysfunction in bipolar disorder., Bipolar Disord, 2, 180, 10.1034/j.1399-5618.2000.020305.x
A Hartmann, 2008, Validation of microarray-based resequencing of 93 worldwide mitochondrial genomes., Hum Mutat, 30, 115, 10.1002/humu.20816
JP Jakupciak, 2008, Facile whole mitochondrial genome resequencing from nipple aspirate fluid using MitoChip v2.0., BMC Cancer, 8, 95, 10.1186/1471-2407-8-95
S Zhou, 2006, An oligonucleotide microarray for high-throughput sequencing of the mitochondrial genome., J Mol Diagn, 8, 476, 10.2353/jmoldx.2006.060008
JP Jakupciak, 2005, Mitochondrial DNA as a cancer biomarker., J Mol Diagn, 7, 258, 10.1016/S1525-1578(10)60553-3
L Jacobs, 2007, mtDNA point mutations are present at various levels of heteroplasmy in human oocytes., Mol Hum Reprod, 13, 149, 10.1093/molehr/gal112
M Leveque, 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, 10.1038/sj.ejhg.5201891
A Maitra, 2004, The Human MitoChip: a high-throughput sequencing microarray for mitochondrial mutation detection., Genome Res, 14, 812, 10.1101/gr.2228504
JP Huelsenbeck, 2001, MRBAYES: Bayesian inference of phylogenetic trees., Bioinformatics, 17, 754, 10.1093/bioinformatics/17.8.754
JP Huelsenbeck, 2001, Bayesian inference of phylogeny and its impact on evolutionary biology., Science, 294, 2310, 10.1126/science.1065889
N Howell, 2004, African Haplogroup L mtDNA sequences show violations of clock-like evolution., Mol Biol Evol, 21, 1843, 10.1093/molbev/msh184
S Purcell, 2007, PLINK: a tool set for whole-genome association and population-based linkage analyses., Am J Hum Genet, 81, 559, 10.1086/519795
M Ingman, 2006, mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences., Nucleic Acids Res, 34, D749, 10.1093/nar/gkj010
S Bannwarth, 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, 10.1002/humu.20177
S Bannwarth, 2006, Rapid identification of unknown heteroplasmic mutations across the entire human mitochondrial genome with mismatch-specific Surveyor Nuclease., Nat Protoc, 1, 2037, 10.1038/nprot.2006.318
MP King, 1989, Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation., Science, 246, 500, 10.1126/science.2814477
K Tamura, 2007, MEGA4: Molecular Evolutionary Genetics Analysis (MEGA) software version 4.0., Mol Biol Evol, 24, 1596, 10.1093/molbev/msm092
M Nei, 1986, Simple methods for estimating the numbers of synonymous and nonsynonymous nucleotide substitutions., Mol Biol Evol, 3, 418
S Maragh, 2008, Multiple strand displacement amplification of mitochondrial DNA from clinical samples., BMC Med Genet, 9, 7, 10.1186/1471-2350-9-7
MT Lin, 2002, High aggregate burden of somatic mtDNA point mutations in aging and Alzheimer's disease brain., Hum Mol Genet, 11, 133, 10.1093/hmg/11.2.133
G Davidzon, 2006, Early-onset familial parkinsonism due to POLG mutations., Ann Neurol, 59, 859, 10.1002/ana.20831
PT Luoma, 2007, Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease., Neurology, 69, 1152, 10.1212/01.wnl.0000276955.23735.eb
JB Stewart, 2008, Strong purifying selection in transmission of mammalian mitochondrial DNA., PLoS Biol, 6, e10, 10.1371/journal.pbio.0060010
A Pyle, 2005, Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD., Ann Neurol, 57, 564, 10.1002/ana.20417
GE Gibson, 2008, Mitochondria and oxidative stress in neurodegenerative disorders. Preface., Ann N Y Acad Sci, 1147, xi
L Shao, 2008, Mitochondrial involvement in psychiatric disorders., Ann Med, 40, 281, 10.1080/07853890801923753
D Ben-Shachar, 2008, Neuroanatomical pattern of mitochondrial complex I pathology varies between schizophrenia, bipolar disorder and major depression., PLoS ONE, 3, e3676, 10.1371/journal.pone.0003676
S Balijepalli, 1999, Inhibition of mitochondrial complex I by haloperidol: the role of thiol oxidation., Neuropharmacology, 38, 567, 10.1016/S0028-3908(98)00215-9
SA Whatley, 1998, Superoxide, neuroleptics and the ubiquinone and cytochrome b5 reductases in brain and lymphocytes from normals and schizophrenic patients., Mol Psychiatry, 3, 227, 10.1038/sj.mp.4000375
W Droge, 2007, Oxidative stress and aberrant signaling in aging and cognitive decline., Aging Cell, 6, 361, 10.1111/j.1474-9726.2007.00294.x
P Wester, 1985, Agonal status affects the metabolic activity of nerve endings isolated from postmortem human brain., Neurochem Pathol, 3, 169, 10.1007/BF02834269
AJ Barton, 1993, Pre- and postmortem influences on brain RNA., J Neurochem, 61, 1, 10.1111/j.1471-4159.1993.tb03532.x
NL Johnston, 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, 10.1016/S0165-0270(97)00115-5
PJ Harrison, 1991, Terminal coma affects messenger RNA detection in post mortem human temporal cortex., Brain Res Mol Brain Res, 9, 161, 10.1016/0169-328X(91)90143-L
MP Vawter, 2004, Gender-specific gene expression in post-mortem human brain: localization to sex chromosomes., Neuropsychopharmacology, 29, 373, 10.1038/sj.npp.1300337
D Mishmar, 2003, Natural selection shaped regional mtDNA variation in humans., Proc Natl Acad Sci U S A, 100, 171, 10.1073/pnas.0136972100
MC Brandon, 2008, MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences., Hum Mutat, 30, 1, 10.1002/humu.20801
E Ruiz-Pesini, 2007, An enhanced MITOMAP with a global mtDNA mutational phylogeny., Nucleic Acids Res, 35, D823, 10.1093/nar/gkl927
RM Andrews, 1999, Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA., Nat Genet, 23, 147, 10.1038/13779
H Strand, 2008, Real-time detection and quantification of mitochondrial mutations with oligonucleotide primers containing locked nucleic acid., Clin Chim Acta, 390, 126, 10.1016/j.cca.2008.01.010
CR Newton, 1989, Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS)., Nucleic Acids Res, 17, 2503, 10.1093/nar/17.7.2503