Structural Abnormalities in the Hair of a Patient With a Novel Ribosomopathy

    March 2016 in “ PLoS ONE
    Richard J. Alsop, Asfia Soomro, Yuchen Zhang, Marc J.M. Pieterse, Ayodele Fatona, Kimberley J Dej, Maikel C. Rheinstädter
    TLDR The patient's hair was thinner and had fewer lipids due to a genetic mutation.
    The study characterized the hair of a patient with a novel ribosomopathy due to a mutation in the RPS23 gene, which affected the 40S ribosome subunit. The patient exhibited symptoms such as hypotonia, autism, extra teeth, elastic skin, and thin/brittle hair. Using optical microscopy, tensile tests, and X-ray diffraction, researchers found the patient's hair was 22% thinner compared to family members, although the Young's modulus was unchanged. X-ray diffraction indicated a 20% reduction in lipids in the cell membrane complex, explaining the hair's altered properties. These findings could aid in diagnosing similar mutations in the future.
    Discuss this study in the Community →

    Research cited in this study

    5 / 5 results

    Related Community Posts Join

    0 / 0 results
    — no results

    Related Research

    5 / 5 results