Mice with Alopecia, Osteoporosis, and Systemic Amyloidosis Due to Mutation in Zdhhc13, a Gene Coding for Palmitoyl Acyltransferase

    June 2010 in “ PLoS Genetics ”
    Amir n. Saleem, Yen‐Hui Chen, Hwa Jin Baek, Ya‐Wen Hsiao, Hongwen Huang, Hsiao‐Jung Kao, Kai-Ming Liu, Li-Fen Shen, I-Wen Song, Chen‐Pei D. Tu, Jer‐Yuarn Wu, Tateki Kikuchi, Monica J. Justice, J. J. Yen, Yuan-Tsong Chen
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    TLDR A gene mutation in mice causes hair loss, weak bones, and protein buildup, showing how protein processing issues can lead to diseases.
    The study identified a mutation in the Zdhhc13 gene, which codes for palmitoyl acyltransferase, in mice that exhibited alopecia, osteoporosis, and systemic amyloidosis. This mutation resulted in a truncated protein and reduced mRNA levels, indicating a loss of function. The findings demonstrated that palmitoyl transferase deficiency could lead to severe phenotypes, linking protein palmitoylation to the regulation of various physiological functions. This mouse model provided insights into the mechanisms by which improper palmitoylation could cause diseases, including human alopecia, osteoporosis, and amyloidosis, as well as other neurodegenerative diseases associated with protein misfolding.
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