Mitochondrial Dysfunction in Primary Ovarian Insufficiency.
Journal
Endocrinology
ISSN: 1945-7170
Titre abrégé: Endocrinology
Pays: United States
ID NLM: 0375040
Informations de publication
Date de publication:
01 10 2019
01 10 2019
Historique:
received:
14
06
2019
accepted:
01
08
2019
pubmed:
9
8
2019
medline:
4
12
2019
entrez:
9
8
2019
Statut:
ppublish
Résumé
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 mitochondria to POI and determine whether there is a common molecular defect in mitochondrial function that distinguishes mitochondria-related genes that when mutated cause POI vs those that do not. Nonetheless, the clear implication of mitochondrial dysfunction in POI suggests that manipulation of mitochondrial function represents an important therapeutic target for the treatment or prevention of POI.
Identifiants
pubmed: 31393557
pii: 5544515
doi: 10.1210/en.2019-00441
pmc: PMC6760336
doi:
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
2353-2366Subventions
Organisme : NCI NIH HHS
ID : R01 CA208516
Pays : United States
Organisme : NIGMS NIH HHS
ID : R01 GM125844
Pays : United States
Organisme : NIDDK NIH HHS
ID : R56 DK112846
Pays : United States
Informations de copyright
Copyright © 2019 Endocrine Society.
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