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Comment
. 2023 Dec;64(12):100474.
doi: 10.1016/j.jlr.2023.100474. Epub 2023 Nov 14.

Dissecting cell type-specific impact in lysosomal acid lipase deficiency-associated disorders

Marit Westerterp  1 , Fang Li  2 , Hanrui Zhang  3
Affiliations
Comment

Dissecting cell type-specific impact in lysosomal acid lipase deficiency-associated disorders

Marit Westerterp et al. J Lipid Res. 2023 Dec.
No abstract available

Keywords: Wolman disease; cholesteryl ester storage disease; enzyme replacement therapy; hyperlipidemia; liver; lysosomal acid lipase.

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Conflict of interest statement

Conflict of interest The authors declare that they have no conflicts of interest with the contents of this article.

Figures

Fig. 1
Fig. 1
Cell type–specific impact of lysosomal acid lipase (LAL) deficiency and the potential role of cell–cell communication via transferable LAL enzymes. Bradić et al. found that hepatocyte-specific LAL deficiency in mice was not sufficient to markedly alter the hepatic proteomic signature and phenotypes when mice were fed a standard laboratory chow diet. The modest phenotype of hepatocyte-specific Lal−/− mice on a chow diet is likely due to the presence of residual acidic CE hydrolase activity in liver lysates. The residual hepatic LAL activity may originate from Kupffer cells and recruited macrophages, as well as circulating LAL produced by other organs. The respective contributions of each source and the mechanism by which LAL enzymes are transferred to hepatocytes remain to be further elucidated. The figure is created with BioRender.com.
See this image and copyright information in PMC

Comment on

References

    1. Korbelius M., Kuentzel K.B., Bradić I., Vujić N., Kratky D. Recent insights into lysosomal acid lipase deficiency. Trends Mol. Med. 2023;29:425–438. - PMC - PubMed
    1. Du H., Duanmu M., Witte D., Grabowski G.A. Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage. Hum. Mol. Genet. 1998;7:1347–1354. - PubMed
    1. Bernstein D.L., Hülkova H., Bialer M.G., Desnick R.J. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J. Hepatol. 2013;58:1230–1243. - PubMed
    1. Leopold C., Duta-Mare M., Sachdev V., Goeritzer M., Maresch L.K., Kolb D., et al. Hepatocyte-specific lysosomal acid lipase deficiency protects mice from diet-induced obesity but promotes hepatic inflammation. Biochim. Biophys. Acta Mol. Cell Biol. Lipids. 2019;1864:500–511. - PMC - PubMed
    1. Bradić I., Liesinger L., Kuentzel K.B., Vujić N., Trauner M., Birner-Gruenberger R., et al. Metabolic changes and propensity for inflammation, fibrosis, and cancer in livers of mice lacking lysosomal acid lipase. J. Lipid Res. 2023;64 - PMC - PubMed

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