IN HYPOPHOSPHATASIA (HPP), DEFICIENT ALP can ruin bones, bodies, and lives. Alexion Endocrinology, Diabetes & Metabolism Case Reports

ISSN 1470-3947 (print)
ISSN 1479-6848 (online)

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Published by BioScientifica
Endocrine Abstracts (2012) 29 P927 

Blood cell mitochondrial DNA content and premature ovarian aging

C. Cacciatore1, M. Bonomi1, E. Somigliana2, M. Busnelli1, R. Rossetti1, A. Paffoni2 & L. Persani1

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Primary ovarian insufficiency (POI) is a critical fertility defect characterized by a progressive and silent impairment of the follicular reserve. POI aetiology is heterogeneous and largely unknown, but a maternal inheritance often characterizes idiopathic forms. Therefore, we hypothesized a possible involvement of a mitochondrial defect in the pathogenesis of this disease since mitochondrial biogenesis and bioenergetics play an essential role in ovarian folliculogenesis. Our aim was to verify whether the content of mitochondrial DNA (mtDNA) was significantly reduced in the peripheral blood cells of POI women. We recruited 101 women with an impaired ovarian reserve: 59 women with premature ovarian failure (POF) and 42 poor responders (PR) to ovarian hyperstimulation. A Taqman copy number assay revealed a significant mtDNA depletion (P<0.001) in both trial groups in comparison with two control groups: 43 women of similar age and with intact ovarian reserve (normal responders to ovarian hyperstimulation, NR) and 53 very old women with a previous physiological menopause (CPM). No variations in a mitochondrial DNA polymerase gene (POLG) were detected in POF women with mtDNA depletion. Due to the ethical impossibility to test the direct correlation of the mtDNA content between the oocyte obtained by assisted reproductive techniques and the blood cell from the same individual, we demonstrated that the mtDNA content in the peripheral blood cells is representative of the one in the granulosa cells. Our results indicate that blood cell mtDNA depletion is a frequent finding among women with premature ovarian aging, suggesting that blood cell mtDNA determination could become an useful tool for POI risk prediction.

Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.

Funding: This work was supported, however funding details unavailable.

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