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Clinical Relevance

Mutations within the gene for BMP-15 have been associated with reproductive complications in females, due to the X-linked nature of the protein. Due to its role in folliculogenesis, mutations can lead to sub-fertility through decreased or absent folliculogenesis. In combination with GDF-9, mutant BMP-15 is also associated with ovulation defects, premature ovarian failure and other reproductive pathologies.

BMP-15 defects have been implicated in female sterility, PCOS, primary ovarian insufficiency (POI) and endometriosis. Women with PCOS have been noted to have higher levels of BMP-15 (cite), while missense mutations of the protein have been identified in females with POI.

Research has also found inherited mutant BMP-15 to be involved with the pathogenesis of hypergonadotropic ovarian failure. This condition develops due to BMP-15 role in folliculogenesis, and the errors that occur when a mutant gene is inherited. The protein is linked to familial ovarian dysgenesis which results in hypergonadotropic ovarian failure.

The importance of BMP-15 in ovulation and folliculogenesis has been highlighted by research into Turner syndrome, a chromosomal abnormality where females are missing a complete or partial X chromosome. Depending on the chromosomal mutation, BMP-15 gene dosage varies and thus impacts ovarian development in Turner syndrome patients. The gene is thus involved in determining the extent of the ovarian defects present in Turner syndrome.

BMP-15 also has applications for animal reproduction, such as in mice and sheep. Reduced levels of BMP-15 in sheep have shown to increase ovulation, leading to larger litter sizes.