Mitochondrial Dysfunction in Primary Ovarian Insufficiency

Endocrinology
Dov TiosanoDavid A Buchner

Abstract

Primary ovarian insufficiency (POI) is defined by the loss or dysfunction of ovarian follicles associated with amenorrhea before the age of 40. Symptoms include hot flashes, sleep disturbances, and depression, as well as reduced fertility and increased long-term risk of cardiovascular disease. POI occurs in ∼1% to 2% of women, although the etiology of most cases remains unexplained. Approximately 10% to 20% of POI cases are due to mutations in a single gene or a chromosomal abnormality, which has provided considerable molecular insight into the biological underpinnings of POI. Many of the genes for which mutations have been associated with POI, either isolated or syndromic cases, function within mitochondria, including MRPS22, POLG, TWNK, LARS2, HARS2, AARS2, CLPP, and LRPPRC. Collectively, these genes play roles in mitochondrial DNA replication, gene expression, and protein synthesis and degradation. Although mutations in these genes clearly implicate mitochondrial dysfunction in rare cases of POI, data are scant as to whether these genes in particular, and mitochondrial dysfunction in general, contribute to most POI cases that lack a known etiology. Further studies are needed to better elucidate the contribution of mitochondr...Continue Reading

References

Jul 1, 1986·American Journal of Obstetrics and Gynecology·B GondosA G Byskov
Jun 30, 1994·Annals of the New York Academy of Sciences·M N GadaletaP Cantatore
Feb 22, 2001·Annual Review of Physiology·D M Stocco
Jun 9, 2001·Developmental Biology·M E Pepling, A C Spradling
Jun 8, 2002·Reproduction : the Official Journal of the Society for the Study of Fertility·Joanna Poulton, David R Marchington
Jan 17, 2003·Proceedings of the National Academy of Sciences of the United States of America·Vamsi K MoothaEric S Lander
Jun 14, 2003·Brain : a Journal of Neurology·Daniela SkladalDavid R Thorburn
May 29, 2004·The EMBO Journal·Jenny A KorhonenMaria Falkenberg
Apr 19, 2005·The International Journal of Biochemistry & Cell Biology·Denis A Magoffin
May 26, 2005·Gene·Matthew J LongleyWilliam C Copeland
May 11, 2006·American Journal of Human Genetics·Matthew J LongleyPatrick F Chinnery
Dec 26, 2006·Proceedings of the National Academy of Sciences of the United States of America·Melissa E PeplingAllan C Spradling
Jun 17, 2009·Seminars in Cell & Developmental Biology·R DumollardK Swann
Jul 8, 2009·Diabetes·Anthony J A MolinaOrian S Shirihai
Nov 17, 2009·Trends in Endocrinology and Metabolism : TEM·Pradeep ReddyKui Liu
Mar 31, 2010·Annual Review of Biochemistry·Nils-Göran Larsson
Apr 3, 2010·Archives of Gynecology and Obstetrics·S VenkateshRima Dada
Aug 18, 2010·Archives of Gynecology and Obstetrics·Malliya Gounder Palanichamy, Ya-Ping Zhang
Jan 27, 2011·Journal of Medical Genetics·François-Guillaume DebrayGrant A Mitchell
Apr 6, 2011·Proceedings of the National Academy of Sciences of the United States of America·Sarah B PierceMary-Claire King
May 10, 2011·American Journal of Human Genetics·Alexandra GötzAnu Suomalainen
Jun 8, 2011·Proceedings of the National Academy of Sciences of the United States of America·Angelika S RamboldJennifer Lippincott-Schwartz
Sep 14, 2011·Annual Review of Genetics·Tsutomu SuzukiTakeo Suzuki
Sep 29, 2011·Nature Reviews. Genetics·Michael J BamshadJay Shendure
Nov 3, 2011·The EMBO Journal·Benedetta RuzzenenteNils-Göran Larsson
Mar 3, 2012·The Indian Journal of Medical Research·Manoj KumarRima Dada
Mar 13, 2012·American Journal of Human Genetics·Ronen SpiegelOrly Elpeleg
Mar 14, 2012·Trends in Biochemical Sciences·Fabian FischerHeinz D Osiewacz
Mar 14, 2012·Proceedings of the National Academy of Sciences of the United States of America·Geng WangCarla M Koehler
Mar 23, 2012·The New England Journal of Medicine·Werner J H KoopmanJan A M Smeitink
May 4, 2012·Human Reproduction·Andrew J DuncanShamima Rahman
May 29, 2012·Biochimica Et Biophysica Acta·Flor Sánchez, Johan Smitz
Aug 25, 2012·Biochimica Et Biophysica Acta·Magdalena FrankAndreas S Reichert
Oct 2, 2012·American Journal of Human Genetics·Beatriz Garcia-DiazCatarina M Quinzii
Feb 19, 2013·The International Journal of Developmental Biology·Esther Collado-FernandezRémi Dumollard
Apr 2, 2013·American Journal of Human Genetics·Emma M JenkinsonWilliam G Newman
Apr 9, 2013·Cell Metabolism·Marc Liesa, Orian S Shirihai
May 11, 2013·Journal of Cell Science·Caroline M Dalton, John Carroll

❮ Previous
Next ❯

Citations

Aug 9, 2020·Molecular Genetics & Genomic Medicine·Zhaoyu PanWei Lu
Oct 11, 2020·Cell Death & Disease·Kazem NouriAaron D Schimmer
Nov 27, 2020·International Journal of Molecular Sciences·Guomin HuangHong Zhang
Sep 19, 2020·Endocrinology·Manasi DasNicholas J G Webster
Dec 3, 2020·Antioxidants·Cristina Rodríguez-Varela, Elena Labarta
Oct 14, 2021·Endocrine Reviews·Yi Shiau NgMark Walker

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.