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Revista Mexicana de Urología

Organo Oficial de la Sociedad Mexicana de Urología
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2017, Number 1

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Rev Mex Urol 2017; 77 (1)

Mitochondrial mutations and polymorphisms in a Mexican prostate cancer patient

Campos-García V, Vázquez-Morfín C, Alvarado-Núñez I, Ramírez-Noguera P, Montiel-Sosa F
Full text How to cite this article

Language: Spanish
References: 26
Page: 61-70
PDF size: 1113.06 Kb.


Key words:

prostate cancer, mitochondrial haplogroups, mtDNA mutations, bioinformatics, transurethral resection of the prostate, homoplasmic mutations.

ABSTRACT

Background: The genetic etiology of prostate cancer, the most common neoplasia in the western countries, is complex, and the interaction of disease genes with environmental factors has been of interest in recent years. Studies on somatic mutations in mitochondrial DNA (mtDNA) have become important in cancer research because these variations can have functional consequences and serve as biosensors for prostate tumor detection and progression.
Clinical Case: In the present study we bidirectionally sequenced the mitochondrial genome (16,569 pb) of both malignant and healthy tissue from the transurethral resection of the prostate of a Mexican patient diagnosed with prostate cancer. Thanks to the specialized bioinformatic tools, MITOMAP and MitImpact, CSS Bioinformatics Lab, the first prostate cancer mutation candidates - T489C, G6261A, C12705T, and C16223T - were located. Other probable mutations found were: C13478G and G12009A (not yet described in the medical literature). All the variations studied were homoplasmic. Likewise, the mitochondrial A2 haplogroup of the patient was identified. Mitochondrial haplogroup frequency is currently being studied in European and Asian populations associated with prostate cancer. However, there are no similar studies conducted on a Mexican population.
Conclusion: In short, somatic mutations in the mitochondrial genome are frequent events in prostate cancer, thus becoming a complementary tool in regard to the traditional prostate cancer diagnostic studies.


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Rev Mex Urol. 2017;77