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

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 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Wiley

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

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References (47)

Publisher
Wiley
Copyright
Copyright © 2003 Wiley‐Liss, Inc., A Wiley Company
ISSN
0148-7299
eISSN
1096-8628
DOI
10.1002/ajmg.b.20041
pmid
12815743
Publisher site
See Article on Publisher Site

Abstract

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.

Journal

American Journal of Medical GeneticsWiley

Published: Jul 1, 2003

Keywords: bipolar disorder; gene expression; polymorphism; haplotype; mitochondria

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