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

Reproductive biology and endocrinology : RB&E - 4 Dec 2024

Henarejos-Castillo Ismael, Sanz Francisco José, Solana-Manrique Cristina, Sebastian-Leon Patricia, Medina Ignacio, Remohi José, Paricio Nuria, Diaz-Gimeno Patricia

Abstract excerpt

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...

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Identifiers

PMID: 39633407
DOI: 10.1186/s12958-024-01325-4
PMCID: PMC11616368

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