Whole-exome sequencing and Drosophila modelling reveal mutated genes and pathways contributing to human ovarian failure.

ABSTRACT:

Background

Ovarian failure (OF) is a multifactorial, complex disease presented by up to 1% of women under 40 years of age. Despite 90% of patients being diagnosed with idiopathic OF, the underlying molecular mechanisms remain unknown, making it difficult to personalize treatments for these patients in the clinical setting. Studying the presence and/or accumulation of SNVs at the gene/pathway levels will help describe novel genes and characterize disrupted biological pathways linked with ovarian failure.

Methods

Ad-hoc case-control SNV screening conducted from 2020 to 2023 of 150 VCF files WES data included Spanish IVF patients with (n = 118) and without (n = 32) OF (< 40 years of age; mean BMI 22.78) along with GnomAD (n = 38,947) and IGSR (n = 1,271; 258 European female VCF

SUBMITTER: Henarejos-Castillo I 

PROVIDER: S-EPMC11616368 | biostudies-literature | 2024 Dec

REPOSITORIES: biostudies-literature