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- L.A.M. Demain
- Manchester Centre for Genomic Medicine St. Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC) Manchester UK
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- G.S. Conway
- Department of Endocrinology University College London Hospitals London UK
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- W.G. Newman
- Manchester Centre for Genomic Medicine St. Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC) Manchester UK
説明
<jats:p>Increasingly, mitochondria are being recognized as having an important role in fertility. Indeed in assisted reproductive technologies mitochondrial function is a key indicator of sperm and oocyte quality. Here, we review the literature regarding mitochondrial genetics and infertility. In many multisystem disorders caused by mitochondrial dysfunction death occurs prior to sexual maturity, or the clinical features are so severe that infertility may be underreported. Interestingly, many of the genes linked to mitochondrial dysfunction and infertility have roles in the maintenance of mitochondrial <jats:styled-content style="fixed-case">DNA</jats:styled-content> or in mitochondrial translation. Studies on populations with genetically uncharacterized infertility have highlighted an association with mitochondrial <jats:styled-content style="fixed-case">DNA</jats:styled-content> deletions, whether this is causative or indicative of poor functioning mitochondria requires further examination. Studies on the impact of mitochondrial <jats:styled-content style="fixed-case">DNA</jats:styled-content> variants present conflicting data but highlight <jats:italic><jats:styled-content style="fixed-case">POLG</jats:styled-content></jats:italic> as a particularly interesting candidate gene for both male and female infertility.</jats:p>
収録刊行物
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- Clinical Genetics
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Clinical Genetics 91 (2), 199-207, 2016-12-09
Wiley
