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CKAP5 deficiency induces premature ovarian insufficiency

Zihao Hu1, Jingping Gao2, Panpan Long3

  • 1Reproductive Medicine Center, Department of Obstetrics and Gynecology, The Second Xiangya Hospital, Central South University, Changsha, Hunan, China; Institute of Reproductive & Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan, China.

Ebiomedicine
|April 19, 2025
PubMed
Abstract

Insights

Cytoskeleton-associated protein 5 (CKAP5) deficiency causes premature ovarian insufficiency (POI) in humans and mice. This study identifies CKAP5 as crucial for ovarian function and fertility, linking its variants to POI development.

Area of Science:

  • Reproductive Biology
  • Genetics
  • Molecular Biology

Background:

  • Premature ovarian insufficiency (POI) is characterized by ovarian dysfunction and diminished ovarian reserve (DOR), with an unclear etiology.
  • CKAP5's role in ovarian function and fertility regulation is investigated.

Purpose of the Study:

  • To elucidate the role of CKAP5 in regulating ovarian function and fertility.
  • To identify genetic variants in CKAP5 associated with POI.

Main Methods:

  • Bulk RNA sequencing of granulosa cells from control and DOR patients.
  • Gene burden analysis in a cohort of POI and control individuals.
  • Phenotypic and transcriptomic analysis of heterozygous Ckap5 knockout mice.

Main Results:

  • CKAP5 was identified as a key gene associated with ovarian aging.
  • Ckap5 knockout mice displayed a POI-like phenotype with reduced primordial follicles and accelerated follicular atresia.
  • CKAP5 deficiency impairs DNA damage repair and autophagy, and a loss-of-function variant was found in POI patients.

Conclusions:

  • CKAP5 deficiency is a cause of premature ovarian insufficiency in both humans and mice.
  • CKAP5 plays a critical role in maintaining ovarian reserve and function through DNA repair and autophagy pathways.
Keywords:
ApoptosisAutophagyCKAP5DNA damage repairPremature ovary insufficiency

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