Neutral Lipid Storage Diseases as Cellular Model to Study Lipid Droplet Function

Cells
Sara MissagliaDaniela Tavian

Abstract

Neutral lipid storage disease with myopathy (NLSDM) and with ichthyosis (NLSDI) are rare autosomal recessive disorders caused by mutations in the PNPLA2 and in the ABHD5/CGI58 genes, respectively. These genes encode the adipose triglyceride lipase (ATGL) and α-β hydrolase domain 5 (ABHD5) proteins, which play key roles in the function of lipid droplets (LDs). LDs, the main cellular storage sites of triacylglycerols and sterol esters, are highly dynamic organelles. Indeed, LDs are critical for both lipid metabolism and energy homeostasis. Partial or total PNPLA2 or ABHD5/CGI58 knockdown is characteristic of the cells of NLSD patients; thus, these cells are natural models with which one can unravel LD function. In this review we firstly summarize genetic and clinical data collected from NLSD patients, focusing particularly on muscle, skin, heart, and liver damage due to impaired LD function. Then, we discuss how NLSD cells were used to investigate and expand the current structural and functional knowledge of LDs.

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Citations

Sep 27, 2019·Nature Reviews. Endocrinology·Leanne Hodson, Pippa J Gunn
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Apr 8, 2021·Critical Reviews in Biochemistry and Molecular Biology·Sara MissagliaCorrado Angelini
May 15, 2021·European Journal of Translational Myology·Daniela TavianSara Missaglia
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Oct 28, 2021·ACS Chemical Neuroscience·Balasubramanian Chellammal MuthubharathiKrishnaswamy Balamurugan
Nov 21, 2021·Nature Metabolism·Gernot F GrabnerRudolf Zechner

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Methods Mentioned

BETA
biopsies
electron microscopy
transfection
PCR

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