Mitochondrial Dysfunction in Primary Ovarian Insufficiency.

Mitochondrial Dysfunction in Primary Ovarian Insufficiency. Endocrinology. 2019 Aug 08;: Authors: Tiosano D, Mears JA, Buchner DA 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 ∼1-2% of women, although the etiology of the majority of cases remains unexplained. Approximately 10-20% 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 is scant as to whether these genes in particular, and mitochondrial dysfunction in general, contribute to the majority of POI cases that lack a known etiology. Further studies will be needed to better elucidate the contribution of mitochondria to POI and whether there is a common molecular de...
Source: Endocrinology - Category: Endocrinology Authors: Tags: Endocrinology Source Type: research