Blood cell mitochondrial DNA content and premature ovarian aging

Primary ovarian insufficiency (POI) is a critical fertility defect characterized by an anticipated and silent impairment of the follicular reserve, but its pathogenesis is largely unexplained. The frequent maternal inheritance of POI together with a remarkable dependence of ovarian folliculogenesis...

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Published in:PloS one 2012-08, Vol.7 (8), p.e42423-e42423
Main Authors: Bonomi, Marco, Somigliana, Edgardo, Cacciatore, Chiara, Busnelli, Marta, Rossetti, Raffaella, Bonetti, Silvia, Paffoni, Alessio, Mari, Daniela, Ragni, Guido, Persani, Luca
Format: Article
Language:English
Subjects:
Adolescent
Adult
Age
Aging
Amenorrhea
Analysis
Bioenergetics
Blood
Blood cells
Blood Cells - metabolism
Cell Nucleus - genetics
Copy number
Deoxyribonucleic acid
Depletion
DNA
DNA polymerase
DNA polymerases
DNA, Mitochondrial - genetics
DNA-directed DNA polymerase
Female
Fertility
Folliculogenesis
Gene Dosage - genetics
Genes
Granulosa Cells - metabolism
Granulosa Cells - pathology
Heredity
Humans
In vitro fertilization
Maternal inheritance
Medicine
Menopause
Mitochondria
Mitochondrial DNA
Musculoskeletal system
Pathogenesis
Physiological aspects
Physiology
Primary Ovarian Insufficiency - blood
Primary Ovarian Insufficiency - genetics
Quantitative genetics
Reproductive status
Womens health
Young Adult
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cited_by cdi_FETCH-LOGICAL-c692t-578719df89dba9594b9730be2087613f5374c805afe66e333fbd4b6983e73b7f3
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container_issue 8
container_start_page e42423
container_title PloS one
container_volume 7
creator Bonomi, Marco
Somigliana, Edgardo
Cacciatore, Chiara
Busnelli, Marta
Rossetti, Raffaella
Bonetti, Silvia
Paffoni, Alessio
Mari, Daniela
Ragni, Guido
Persani, Luca
description Primary ovarian insufficiency (POI) is a critical fertility defect characterized by an anticipated and silent impairment of the follicular reserve, but its pathogenesis is largely unexplained. The frequent maternal inheritance of POI together with a remarkable dependence of ovarian folliculogenesis upon mitochondrial biogenesis and bioenergetics suggested the possible involvement of a generalized mitochondrial defect. Here, we verified the existence of a significant correlation between blood and ovarian mitochondrial DNA (mtDNA) content in a group of women undergoing ovarian hyperstimulation (OH), and then aimed to verify whether mtDNA content was significantly altered in the 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 OH. A Taqman copy number assay revealed a significant mtDNA depletion (P
doi_str_mv 10.1371/journal.pone.0042423
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The frequent maternal inheritance of POI together with a remarkable dependence of ovarian folliculogenesis upon mitochondrial biogenesis and bioenergetics suggested the possible involvement of a generalized mitochondrial defect. Here, we verified the existence of a significant correlation between blood and ovarian mitochondrial DNA (mtDNA) content in a group of women undergoing ovarian hyperstimulation (OH), and then aimed to verify whether mtDNA content was significantly altered in the 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 OH. A Taqman copy number assay revealed a significant mtDNA depletion (P&lt;0.001) in both POF and PR women in comparison with 43 women of similar age and intact ovarian reserve, or 53 very old women with a previous physiological menopause. No pathogenic variations in the mitochondrial DNA polymerase γ (POLG) gene were detected in 57 POF or PR women with low blood mtDNA content. In conclusion, blood cell mtDNA depletion is a frequent finding among women with premature ovarian aging, suggesting that a still undetermined but generalized mitochondrial defect may frequently predispose to POI which could then be considered a form of anticipated aging in which the ovarian defect may represent the first manifestation. 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subjects Adolescent
Adult
Age
Aging
Amenorrhea
Analysis
Bioenergetics
Blood
Blood cells
Blood Cells - metabolism
Cell Nucleus - genetics
Copy number
Deoxyribonucleic acid
Depletion
DNA
DNA polymerase
DNA polymerases
DNA, Mitochondrial - genetics
DNA-directed DNA polymerase
Female
Fertility
Folliculogenesis
Gene Dosage - genetics
Genes
Granulosa Cells - metabolism
Granulosa Cells - pathology
Heredity
Humans
In vitro fertilization
Maternal inheritance
Medicine
Menopause
Mitochondria
Mitochondrial DNA
Musculoskeletal system
Pathogenesis
Physiological aspects
Physiology
Primary Ovarian Insufficiency - blood
Primary Ovarian Insufficiency - genetics
Quantitative genetics
Reproductive status
Womens health
Young Adult
title Blood cell mitochondrial DNA content and premature ovarian aging
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