SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

    July 2010 in “ Cell ”
    Vincent Cantagrel, Dirk Lefeber, Bobby G. Ng, Ziqiang Guan, Jennifer L. Silhavy, Stephanie Bielas, Ludwig Lehle, Hans Hombauer, Maciej Adamowicz, Ewa Świeżewska, Arjan Pm de Brouwer, Peter Blümel, Jolanta Sykut-Cegielska, Scott Houliston, Dominika Swistun, Bassam R. Ali, William B. Dobyns, Dusica Babovic‐Vuksanovic, Hans van Bokhoven, Ron A. Wevers, Christian R. H. Raetz, Hudson H. Freeze, Éva Morava, Lihadh Al‐Gazali, Joseph G. Gleeson
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    TLDR Mutations in the SRD5A3 gene cause a new type of glycosylation disorder by blocking the production of a molecule necessary for protein glycosylation.
    The document from July 2010 revealed that mutations in the SRD5A3 gene cause a new type of Congenital Disorder of Glycosylation (CDG) by disrupting the conversion of polyprenol to dolichol, which is essential for protein N-glycosylation. The study involved screening 31 patients with CDG-Ix and 7 with clinical overlap for SRD5A3 mutations, using genotyping, linkage analysis, direct sequencing, and mass spectrometry. It was found that SRD5A3 mutations led to a significant increase in the polyprenol to dolichol ratio, indicating a loss of function in the affected patients. The research also demonstrated that the human SRD5A3 gene could rescue glycosylation defects in yeast mutants, suggesting a conserved function across species. The findings highlight the importance of SRD5A3 in the early steps of protein glycosylation and its role in human development and disease.
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