Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles

    May 2020 in “ International Journal of Molecular Sciences ”
    Aneta Ścieżyńska, Marta Soszyńska, Michał Komorowski, Anna Podgórska, Natalia Krześniak, Aleksandra Nogowska, Martyna Smolińska, Kamil Szulborski, Jacek P. Szaflik, Bartłomiej Noszczyk, Monika Ołdak, Jacek Malejczyk
    TLDR Hair follicles can be used to study gene mutations in Stargardt disease.
    The study explored the use of human hair follicles for analyzing ABCA4 gene mutations in Stargardt disease, a juvenile macular degeneration. Researchers found that ABCA4 gene expression was significantly higher in hair follicles than in skin, making them a viable model for studying ABCA4 variants. The study involved 3 patients with Stargardt disease and identified specific splice-site variants affecting gene processing. Hair follicles were highlighted as a non-invasive, cost-effective alternative for assessing ABCA4 gene expression and variant pathogenicity, although limitations like the inability to block nonsense-mediated decay in non-cultured cells were noted. Further research was suggested to explore the correlation between ABCA4 expression levels and disease severity.
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