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Unraveling Causes of Primary Ovarian Insufficiency

Gloved hand holding a magnifying glass to examine a plastic model of an ovary.

Many women with galactosemia, an inherited condition in which the body is unable to metabolize the simple sugar galactose, develop primary ovarian insufficiency (POI). To better understand the underlying mechanisms, researchers from the Pediatric and Adolescent Gynecology Program analyzed ovarian tissue samples from girls with galactosemia.

  • Using single-nucleus RNA sequencing and spatial transcriptomics techniques, the scientists thoroughly characterized pediatric ovarian tissues to investigate the changes in gene expression and cell signaling that occur in girls with galactosemia.
  • Their analysis revealed activation of genes that can promote the programmed cell death, or apoptosis, of granulosa cells. These cells produce reproductive hormones and support ovarian follicles—the small sacs in the ovaries in which eggs grow and mature.
  • They also observed aberrant regulation of certain cell-signaling networks important for activating primordial follicles, the precursors to follicles. This dysregulation could impair follicle activation and survival.
  • Knowledge about how POI develops in women with galactosemia can be applied to develop therapies that preserve ovarian function and promote reproductive health.

Reference

Kavarthapu R, Lou H, Pham T, Do H, Soliman ME, Badger T, Balasubramanian R, Huyhn V, De La Luz Sierra M, Yano Maher JC, Gomez-Lobo V. Single-nucleus and spatial transcriptomics of paediatric ovary: Molecular insights into the dysregulated signalling pathways underlying premature ovarian insufficiency in classic galactosemia. Clinical and Translational Medicine DOI: 10.1002/ctm2.70043 (2024)

Learn more about the Developmental Endocrinology, Metabolism & Genetics group: https://www.nichd.nih.gov/about/org/dir/affinity-groups/DEMG-EO.

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