Genetics of mitochondrial dysfunction and infertility

LAM Demain, GS Conway, WG Newman - Clinical genetics, 2017 - Wiley Online Library
Increasingly, mitochondria are being recognized as having an important role in fertility.
Indeed in assisted reproductive technologies mitochondrial function is a key indicator of …

[HTML][HTML] Genetic variance modifies apoptosis susceptibility in mature oocytes via alterations in DNA repair capacity and mitochondrial ultrastructure

GI Perez, BM Acton, A Jurisicova, GA Perkins… - Cell Death & …, 2007 - nature.com
Although the identification of specific genes that regulate apoptosis has been a topic of
intense study, little is known of the role that background genetic variance plays in …

Ultrastructure of mitochondria of human oocytes in different clinical conditions during assisted reproduction

M Belli, MG Palmerini, S Bianchi, S Bernardi… - Archives of Biochemistry …, 2021 - Elsevier
Infertility affects around 8% of couples with a slight change in percentage in the last years.
Despite the significant efforts made in Assisted Reproductive Technologies (ARTs) in …

Insights into primary ovarian insufficiency through genetically engineered mouse models

SD Sullivan, DH Castrillon - Seminars in reproductive medicine, 2011 - thieme-connect.com
Primary ovarian insufficiency (POI), also known as premature ovarian failure, is a form of
hypergonadotropic hypogonadism that causes infertility in~ 1% of women< 40 years of age …

Mitochondrial DNA assessment to determine oocyte and embryo viability

E Fragouli, D Wells - Seminars in reproductive medicine, 2015 - thieme-connect.com
Mitochondria are the key regulators of multiple vital cellular processes, including apoptosis,
calcium homeostasis, and the generation of ATP via the metabolic pathway known as …

Genetics of primary ovarian insufficiency: a review

C Fortuño, E Labarta - Journal of assisted reproduction and genetics, 2014 - Springer
Primary ovarian insufficiency is one of the main causes of female infertility owing to an
abnormal ovarian reserve. Its relevance has increased in more recent years due to the fact …

Genes and ovarian insufficiency

S Christin-Maitre, P Bouchard - Annales d'endocrinologie, 1999 - pubmed.ncbi.nlm.nih.gov
Premature ovarian failure is defined as hypoestrogenism with elevated gonadotropins,
occurring before the age of 40. The prevalence of this syndrome is 3% of the women …

Mitochondrial dysfunction and age-related oocyte quality

H Li, RC Chian - Reproductive and Developmental Medicine, 2017 - mednexus.org
Fertility disorders have become a growing problem worldwide. It is well known that female
fertility decreases with age, previous studies suggested that the age-related decline in …

Oocyte maturation and embryonic failure

RM Moor, Y Dai, C Lee, J Fulka Jr - Human reproduction update, 1998 - academic.oup.com
Embryonic development is readily compromised by imperfections introduced during the
process of oocyte maturation. We discuss the nature and causes of these imperfections …

Cellular and genetic analysis of oocytes and embryos in a human case of spontaneous oocyte activation

CMH Combelles, WG Kearns, JH Fox… - Human …, 2011 - academic.oup.com
Unusual and consistent defects in infertility patients merit attention as these may indicate an
underlying genetic abnormality, in turn necessitating tailored management strategies. We …