The Causative Gene in Chanarian Dorfman Syndrome Regulates Lipid Droplet Homeostasis in .

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Chanarin-Dorfman Syndrome (CDS) is a rare metabolic disease characterized by an abnormal accumulation of lipids in various tissues and organs due to a failure in lipid breakdown. Characteristic clinical features exhibited by affected patients include scaly skin (ichthyosis), enlarged liver, blurred vision among others. CDS is caused by mutation of the cgi-58 gene, which is essential for lipid breakdown, but may also have additional cellular functions. Here, we demonstrate that in C. elegans CGI-58 acts both as a key player in lipid breakdown, but it is also required to maintain the barrier that defines the size, shape and catalytic efficacy of the major lipid storage site-the lipid droplets. We provide a genetically tractable animal model of CDS that reproduces many of the defects observed in affected CDS individuals.

Vyšlo v časopise: The Causative Gene in Chanarian Dorfman Syndrome Regulates Lipid Droplet Homeostasis in .. PLoS Genet 11(6): e32767. doi:10.1371/journal.pgen.1005284
Kategorie: Research Article
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1005284

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