title: Somatic D-loop mitochondrial DNA mutations are frequent in uterine serous carcinoma.
abstract: The mitochondria plays a role in apoptosis. Its genome is also more susceptible to mutations because of high levels of reactive oxygen species and limited repair mechanisms. The D-loop of mitochondrial DNA (mtDNA) contains essential transcription and replication elements, and mutations in this region might alter the rate of DNA replication. We examined genetic alterations in the D-loop region of mtDNA in uterine serous carcinoma (USC) samples and their paired normal adjacent endometrium. DNA was extracted after laser-capture microdissection of paraffin-embedded tissues from eight patients with USC. The entire D-loop genome was amplified using nine pairs of overlapping primers. Denatured polymerase chain reaction (PCR) products were subjected to single-strand conformation polymorphism (SSCP) analysis. Somatic mtDNA alterations were detected in five tumours (63%). Our study indicates that mtDNA D-loop sequence alterations occur at a high frequency in USC suggesting that mtDNA mutations may play a role in the development of USC.
authors.affiliation: Division of Gynecologic Oncology, Yale University School of Medicine, New Haven, CT, USA.
authors.forename: Tanja
authors.initials: T
authors.lastname: Pejovic
authors.forename: Daniela
authors.initials: D
authors.lastname: Ladner
authors.forename: Marilyn
authors.initials: M
authors.lastname: Intengan
authors.forename: Karl
authors.initials: K
authors.lastname: Zheng
authors.forename: Tracy
authors.initials: T
authors.lastname: Fairchild
authors.forename: Deborah
authors.initials: D
authors.lastname: Dillon
authors.forename: Samantha
authors.initials: S
authors.lastname: Easley
authors.forename: Dionne
authors.initials: D
authors.lastname: Dillon
authors.forename: David
authors.initials: D
authors.lastname: Marchetti
authors.forename: Peter
authors.initials: P
authors.lastname: Schwartz
authors.forename: Shashikant
authors.initials: S
authors.lastname: Lele
authors.forename: Jose
authors.initials: J
authors.lastname: Costa
authors.forename: Kunle
authors.initials: K
authors.lastname: Odunsi
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D014594:Uterine Neoplasms / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial