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Related Experiment Videos

Mutations and polymorphisms in gonadotropin genes.

I Huhtaniemi1, M Jiang, C Nilsson

  • 1Department of Physiology, University of Turku, Finland. ilpo.huhtaniemi@utu.fi

Molecular and Cellular Endocrinology
|July 20, 1999
PubMed
Summary
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Rare mutations in gonadotropin genes, like luteinizing hormone (LH) and follicle-stimulating hormone (FSH), cause infertility and puberty issues. A common LH variant affects pituitary-gonadal function and disease susceptibility.

Area of Science:

  • Endocrinology
  • Human Genetics
  • Reproductive Biology

Background:

  • Mutations in gonadotropin genes are exceptionally rare, with limited documented cases of inactivating luteinizing hormone (LH) beta and follicle-stimulating hormone beta (FSHbeta) mutations.
  • Known inactivating mutations lead to severe reproductive phenotypes, including absence of puberty, infertility, primary amenorrhea, and azoospermia.

Purpose of the Study:

  • To investigate the impact of a common genetic variant in the LH beta-subunit gene on pituitary-gonadal function.
  • To understand how this variant influences reproductive health and susceptibility to related pathologies.

Main Methods:

  • Analysis of a common genetic variant (v) in the LH beta-subunit gene, involving two specific point mutations.
  • In vitro assessment of the variant LH molecule's bioactivity and in vivo circulatory half-life.

Related Experiment Videos

  • Cell line transfections to compare the promoter activity of the variant LHbeta allele with the wild-type (wt) LH.

    • Main Results:

    • The variant LHbeta allele results in amino acid alterations (Trp8Arg, Ile15Thr) and an additional glycosylation site.
    • The variant LH molecule exhibits increased in vitro bioactivity but decreased in vivo half-life.
    • The v-LHbeta promoter shows approximately 50% higher activity compared to the wt LH promoter in transfections.

    Conclusions:

    • The common LHbeta variant significantly influences LH synthesis and action.
    • Individuals with this variant may have altered susceptibility to reproductive disorders such as delayed puberty, polycystic ovarian syndrome, and infertility.
    • This highlights the clinical relevance of common genetic variations in hormone production and function.