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Related Experiment Videos

Enzymatic basis of typical X-linked icthyosis

L J Shapiro, R Weiss, M M Buxman

    Lancet (London, England)
    |October 7, 1978
    PubMed
    Summary

    Patients with X-linked ichthyosis show significantly lower steroid sulphatase enzyme levels. This suggests a common genetic mutation impacts enzyme activity in this rare skin disorder.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Dermatology

    Background:

    • Ichthyosis encompasses a group of genetic skin disorders characterized by dry, scaling skin.
    • X-linked ichthyosis (XLI) is a severe form of ichthyosis with distinct genetic underpinnings.
    • Steroid sulphatase (STS) is an enzyme crucial for skin barrier function and steroid metabolism.

    Purpose of the Study:

    • To investigate steroid sulphatase (STS) activity in individuals diagnosed with X-linked ichthyosis (XLI).
    • To compare STS enzyme levels in XLI patients with healthy controls and patients suffering from other ichthyosis subtypes.
    • To explore the potential genetic basis for reduced STS activity in XLI.

    Main Methods:

    • Cultured skin fibroblasts were obtained from 25 individuals with a confirmed diagnosis of X-linked ichthyosis across four countries.

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  • Steroid sulphatase (STS) enzyme activity was quantitatively measured in these cultured fibroblast samples.
  • Enzyme activity levels were compared between the XLI cohort, control groups, and patients with non-XLI ichthyosis types.

    • Main Results:

    • All 25 individuals with X-linked ichthyosis exhibited markedly reduced levels of steroid sulphatase (STS) activity.
    • STS enzyme levels in XLI patients were significantly lower compared to both healthy controls and patients with other forms of ichthyosis.
    • The consistent deficiency across diverse geographical origins suggests a shared underlying cause.

    Conclusions:

    • X-linked ichthyosis is strongly associated with a significant deficiency in steroid sulphatase (STS) enzyme activity.
    • The findings indicate that a common mutation likely affects the expression or function of STS, leading to XLI.
    • This research highlights STS deficiency as a key diagnostic and potentially therapeutic target for X-linked ichthyosis.