Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder

Linkage of bipolar disorder with 18p11 has been replicated by several investigators. A nuclear‐encoded mitochondrial complex I subunit gene, NDUFV2, is one of the candidate genes in this locus, since the possible pathophysiological significance of mitochondrial dysfunction in bipolar disorder has be...

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Published in:American journal of medical genetics. Part B, Neuropsychiatric genetics Neuropsychiatric genetics, 2003-07, Vol.120B (1), p.72-78
Main Authors: Washizuka, Shinsuke, Kakiuchi, Chihiro, Mori, Kanako, Kunugi, Hiroshi, Tajima, Osamu, Akiyama, Tsuyoshi, Nanko, Shinichiro, Kato, Tadafumi
Format: Article
Language:English
Subjects:
Adult
bipolar disorder
Bipolar Disorder - genetics
Case-Control Studies
Chromosomes, Human, Pair 18 - genetics
DNA, Mitochondrial
Female
gene expression
Gene Frequency
Genetic Predisposition to Disease
Genotype
haplotype
Haplotypes
Humans
Male
Middle Aged
mitochondria
polymorphism
Polymorphism, Single Nucleotide
Reverse Transcriptase Polymerase Chain Reaction
RNA, Messenger - metabolism
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Summary:Linkage of bipolar disorder with 18p11 has been replicated by several investigators. A nuclear‐encoded mitochondrial complex I subunit gene, NDUFV2, is one of the candidate genes in this locus, since the possible pathophysiological significance of mitochondrial dysfunction in bipolar disorder has been suggested. The objective of our study was to clarify the association between the NDUFV2 gene and bipolar disorder. We performed the real‐time quantitative reverse transcription polymerase chain reaction (RT‐PCR) for NDUFV2 mRNA expression in lymphoblastoid cell lines derived from patients with bipolar disorder and healthy controls. We also screened novel polymorphisms using denaturing high performance liquid chromatography (D‐HPLC) and PCR‐direct sequencing method. Detected five single nucleotide polymorphisms (SNPs) were genotyped. A decrease of the expression level of NDUFV2 gene was found in patients with bipolar I disorder compared with controls (P = 0.006). We also found that the haplotype frequencies of the four polymorphisms in the upstream region of NDUFV2 were significantly different between bipolar disorders and controls (P = 0.0001). Our findings suggest that polymorphisms of the NDUFV2 gene may be one of the genetic risk factors for bipolar disorder. © 2003 Wiley‐Liss, Inc.
ISSN:1552-4841
1552-485X
DOI:10.1002/ajmg.b.20041