J Biol Chem 2022 Jun 21:102159. Epub 2022 Jun 21.
Department of Medicine, Division of Endocrinology and Metabolism, University of California, San Diego, La Jolla, CA, USA; Department of Cellular and Molecular Medicine, University of California, San Diego, La Jolla, CA, USA; Glycobiology Research and Training Center, University of California, San Diego, La Jolla, CA, USA. Electronic address:
Lysosomal storage diseases result in various developmental and physiological complications, including cachexia. To study the causes for the negative energy balance associated with cachexia, we assessed the impact of sulfamidase deficiency and heparan sulfate storage on energy homeostasis and metabolism in a mouse model of Type IIIa mucopolysaccharidosis (MPS IIIa, Sanfilippo A syndrome). At 12 weeks of age, MPS IIIa mice exhibited fasting and postprandial hypertriglyceridemia compared to wild-type mice, with a reduction of white and brown adipose tissue depots. Read More