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  • Title: Somatic D-loop mitochondrial DNA mutations are frequent in uterine serous carcinoma.
    Author: Pejovic T, Ladner D, Intengan M, Zheng K, Fairchild T, Dillon D, Easley S, Dillon D, Marchetti D, Schwartz P, Lele S, Costa J, Odunsi K.
    Journal: Eur J Cancer; 2004 Nov; 40(16):2519-24. PubMed ID: 15519528.
    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.
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