The Role of Functional Variants in the Etiology of Polycystic Ovary Syndrome

    January 2017 in “ Murdoch Research Repository (Murdoch University) ”
    Rebecca G. Smith
    TLDR A new genetic variant in the EEF2K gene may contribute to polycystic ovary syndrome.
    This study aimed to enhance the understanding of the genetic basis of polycystic ovary syndrome (PCOS) by identifying functional genetic variants through exome sequencing. The research identified a novel variant, rs143321413, in the EEF2K gene, which may play a role in PCOS. The study involved creating mammalian expression vectors with both wildtype and mutant EEF2K sequences and optimizing transfection protocols in HEK293FT cells to investigate the variant's functional impact. Additionally, two more potential variants were discovered in newly sequenced individuals, contributing to the future exploration of PCOS's genetic aetiology.
    Discuss this study in the Community →

    Related Community Posts Join

    6 / 21 results

      community How does hair loss and recovery work?

      in Chat  12 upvotes 1 year ago
      Hair loss varies due to genetic sensitivity to DHT and other factors. Treatments discussed include finasteride, minoxidil, RU58841, and microneedling.

      community Sugar and Hair loss connections

      in Research/Science  41 upvotes 6 months ago
      High sugar diets may worsen hair loss by increasing 5α-reductase activity and androgen levels, especially in women with PCOS. A low sugar diet might reduce scalp DHT levels, similar to finasteride, but genetics also significantly influence hair loss.

      community C’est terrible - at my wits end

      in Female  450 upvotes 2 years ago
      A 29-year-old woman is experiencing gradual hair thinning since age 15, suspects Androgenic Alopecia, and has tried 5% minoxidil with little success. She has purchased various hair loss treatments including minoxidil, dutasteride, finasteride, and spironolactone, but is cautious about starting them due to potential interactions with her ADHD medication.

    Similar Research

    5 / 1000+ results