Mitochondrial DNA (mtDNA) mutations have been implicated in a wide range of @entity1 disease. However, its role in @entity1469 remains unclear. In this study, the entire mitochondrial genome of 10 hydatidiform moles (HM) and one @entity1466 were examined by automated DNA sequencing after amplification by polymerase chain reaction. MtDNA sequences obtained separately from disease tissues (HM and @entity1466 ) and @entity1 ' 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 @entity1466 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 @entity1466 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 @entity1466 suggests that mtDNA mutations might play an important role in the molecular pathogenesis of invasive @entity1469 .

Detection of mitochondrial DNA mutations in XXXX .

@entity1 :: ('9606', 'Species') :: ['human', 'patients'] @entity1466 :: ('MESH:D002822', 'Disease') :: ['choriocarcinoma'] @entity1469 :: ('MESH:D031901', 'Disease') :: ['gestational trophoblastic disease']
@entity1469 :: (MESH:D031901,Disease) :: ['gestational trophoblastic disease']
