Lysosomal acid lipase-deficient mice: depletion of white and brown fat, severe hepatosplenomegaly, and shortened life span

J Lipid Res. 2001 Apr;42(4):489-500.

Abstract

Lysosomal acid lipase (LAL) is essential for the hydrolysis of triglycerides (TG) and cholesteryl esters (CE) in lysosomes. A mouse model created by gene targeting produces no LAL mRNA, protein, or enzyme activity. The lal-/- mice appear normal at birth, survive into adulthood, and are fertile. Massive storage of TG and CE is observed in adult liver, adrenal glands, and small intestine. The age-dependent tissue and gross progression in this mouse model are detailed here. Although lal-/- mice can be bred to give homozygous litters, they die at ages of 7 to 8 months. The lal-/- mice develop enlargement of a single mesenteric lymph node that is full of stored lipids. At 6;-8 months of age, the lal-/- mice have completely absent inguinal, interscapular, and retroperitoneal white adipose tissue. In addition, brown adipose tissue is progressively lost. The plasma free fatty acid levels are significantly higher in lal-/- mice than age-matched lal+/+ mice, and plasma insulin levels were more elevated upon glucose challenge. Energy intake was also higher in lal-/- male mice, although age-matched body weights were not significantly altered from age-matched lal+/+ mice. Early in the disease course, hepatocytes are the main storage cell in the liver; by 3;-8 months, the lipid-stored Kupffer cells progressively fill the liver. The involvement of macrophages throughout the body of lal-/- mice provide evidence for a critical nonappreciated role of LAL in cellular cholesterol and fatty acid metabolism, adipocyte differentiation, and fat mobilization.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adipocytes / cytology*
  • Adipocytes / metabolism
  • Adipose Tissue / metabolism*
  • Adipose Tissue, Brown / metabolism*
  • Aging
  • Animals
  • Blood Glucose / analysis
  • Cell Differentiation
  • Cholesterol Ester Storage Disease / genetics
  • Cholesterol Ester Storage Disease / metabolism
  • Cholesterol Ester Storage Disease / pathology
  • Cholesterol Esters / metabolism
  • Hepatomegaly / metabolism
  • Hepatomegaly / pathology*
  • Humans
  • Insulin Resistance
  • Intestinal Mucosa / metabolism
  • Intestines / pathology
  • Lipase / deficiency
  • Lipase / genetics
  • Lipase / metabolism*
  • Lipoproteins / blood
  • Liver / metabolism
  • Liver / pathology
  • Lymph Nodes / pathology
  • Lysosomes / enzymology
  • Lysosomes / metabolism
  • Lysosomes / ultrastructure
  • Male
  • Mice
  • Mice, Knockout
  • Spleen / metabolism
  • Spleen / pathology
  • Splenomegaly / metabolism
  • Splenomegaly / pathology*
  • Triglycerides / metabolism
  • Wolman Disease / genetics
  • Wolman Disease / metabolism
  • Wolman Disease / pathology

Substances

  • Blood Glucose
  • Cholesterol Esters
  • Lipoproteins
  • Triglycerides
  • Lipase