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Article: Detection of mitochondrial DNA mutations in gestational trophoblastic disease.

TitleDetection of mitochondrial DNA mutations in gestational trophoblastic disease.
Authors
Issue Date2003
Citation
Human Mutation, 2003, v. 22 n. 2, p. 177 How to Cite?
AbstractMitochondrial DNA (mtDNA) mutations have been implicated in a wide range of human disease. However, its role in gestational trophoblastic disease remains unclear. In this study, the entire mitochondrial genome of 10 hydatidiform moles (HM) and one choriocarcinoma were examined by automated DNA sequencing after amplification by polymerase chain reaction. MtDNA sequences obtained separately from disease tissues (HM and choriocarcinoma) and patients' tissues were compared. Of the 133 neutral sequence variants identified, 41 have not been reported to date. Large or small-scale deletion or insertion was not detected in any of the samples studied. A total of six (five in the D-loop and one in the 16S rRNA gene) somatic point mutations were detected in the choriocarcinoma sample, in contrast to none being detected in the HM samples. Somatic mtDNA instability was detected in the D-loop region in three cases of HM as well as in the choriocarcinoma sample. Somatic mtDNA instability appeared in the same nucleotide position, from 303 to 309, within the Conserved Sequence Block II resulting in alteration in length of the homopolymorphic C-tract, reflecting microsatellite instability. The results suggest that mtDNA instability may be an early event occurring at a premalignant stage. Occurrence of multiple somatic mtDNA mutations in choriocarcinoma suggests that mtDNA mutations might play an important role in the molecular pathogenesis of invasive gestational trophoblastic disease. Copyright 2003 Wiley-Liss, Inc.
Persistent Identifierhttp://hdl.handle.net/10722/148397
ISSN
2015 SCImago Journal Rankings: 3.670

 

DC FieldValueLanguage
dc.contributor.authorChiu, PMen_HK
dc.contributor.authorLiu, VWen_HK
dc.contributor.authorNgan, HYen_HK
dc.contributor.authorKhoo, USen_HK
dc.contributor.authorCheung, ANen_HK
dc.date.accessioned2012-05-29T06:12:42Z-
dc.date.available2012-05-29T06:12:42Z-
dc.date.issued2003en_HK
dc.identifier.citationHuman Mutation, 2003, v. 22 n. 2, p. 177en_HK
dc.identifier.issn1098-1004en_HK
dc.identifier.urihttp://hdl.handle.net/10722/148397-
dc.description.abstractMitochondrial DNA (mtDNA) mutations have been implicated in a wide range of human disease. However, its role in gestational trophoblastic disease remains unclear. In this study, the entire mitochondrial genome of 10 hydatidiform moles (HM) and one choriocarcinoma were examined by automated DNA sequencing after amplification by polymerase chain reaction. MtDNA sequences obtained separately from disease tissues (HM and choriocarcinoma) and patients' tissues were compared. Of the 133 neutral sequence variants identified, 41 have not been reported to date. Large or small-scale deletion or insertion was not detected in any of the samples studied. A total of six (five in the D-loop and one in the 16S rRNA gene) somatic point mutations were detected in the choriocarcinoma sample, in contrast to none being detected in the HM samples. Somatic mtDNA instability was detected in the D-loop region in three cases of HM as well as in the choriocarcinoma sample. Somatic mtDNA instability appeared in the same nucleotide position, from 303 to 309, within the Conserved Sequence Block II resulting in alteration in length of the homopolymorphic C-tract, reflecting microsatellite instability. The results suggest that mtDNA instability may be an early event occurring at a premalignant stage. Occurrence of multiple somatic mtDNA mutations in choriocarcinoma suggests that mtDNA mutations might play an important role in the molecular pathogenesis of invasive gestational trophoblastic disease. Copyright 2003 Wiley-Liss, Inc.en_HK
dc.languageengen_US
dc.relation.ispartofHuman mutationen_HK
dc.subject.meshChoriocarcinoma - Geneticsen_US
dc.subject.meshDna, Mitochondrial - Geneticsen_US
dc.subject.meshDna, Neoplasm - Geneticsen_US
dc.subject.meshFemaleen_US
dc.subject.meshGestational Ageen_US
dc.subject.meshGestational Trophoblastic Disease - Geneticsen_US
dc.subject.meshHumansen_US
dc.subject.meshHydatidiform Mole - Geneticsen_US
dc.subject.meshMutation - Geneticsen_US
dc.subject.meshPregnancyen_US
dc.subject.meshPregnancy Complications, Neoplastic - Pathologyen_US
dc.subject.meshPregnancy Trimester, Third - Geneticsen_US
dc.titleDetection of mitochondrial DNA mutations in gestational trophoblastic disease.en_HK
dc.typeArticleen_HK
dc.identifier.emailLiu, VW: vwsliu@hkusua.hku.hken_HK
dc.identifier.emailNgan, HY: hysngan@hkucc.hku.hken_HK
dc.identifier.emailKhoo, US: uskhoo@hku.hken_HK
dc.identifier.emailCheung, AN: anycheun@hkucc.hku.hken_HK
dc.identifier.authorityLiu, VW=rp00341en_HK
dc.identifier.authorityNgan, HY=rp00346en_HK
dc.identifier.authorityKhoo, US=rp00362en_HK
dc.identifier.authorityCheung, AN=rp00542en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid12872261-
dc.identifier.scopuseid_2-s2.0-1542442232en_HK
dc.identifier.hkuros86067en_US
dc.identifier.volume22en_HK
dc.identifier.issue2en_HK
dc.identifier.spage177en_HK
dc.identifier.epage177en_HK
dc.identifier.scopusauthoridChiu, PM=7103182596en_HK
dc.identifier.scopusauthoridLiu, VW=7006405113en_HK
dc.identifier.scopusauthoridNgan, HY=34571944100en_HK
dc.identifier.scopusauthoridKhoo, US=7004195799en_HK
dc.identifier.scopusauthoridCheung, AN=54927484100en_HK

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