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Gene Review

LIPA  -  lipase A, lysosomal acid, cholesterol...

Homo sapiens

Synonyms: Acid cholesteryl ester hydrolase, CESD, Cholesteryl esterase, LAL, Lipase A, ...
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Disease relevance of LIPA

  • A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease [1].
  • A deficiency of LIP activity has been observed in Wolman's disease (WD), cholesterol ester storage disease (CESD), and I-cell disease (ICD); this deficiency was associated with only one LIP isozyme, LIPA [2].
  • Samples taken from 94 drug-naive individuals with established HIV infection and 13 patients with primary HIV infection were assessed by nucleotide sequencing and LIPA [3].
  • These studies provide the basis for the use of gene therapy, in the form of gene transfer via intravenously administered adenovirus, to correct deficiency states, such as WD and CESD, and histopathology of a variety of tissues [4].
  • We cloned the human LAL cDNA and expressed the active enzyme in the baculovirus system [5].

Psychiatry related information on LIPA

  • Depression measured by the CESD score (RR=1.04 95%CI [1.01-1.06]), cocaine use (RR=2.48 95%CI [1.31-4.68]) and alcohol consumption exceeding 4 alcohol units (AU) per day (RR=2.29, 95%CI [1.17-4.46]) were independently associated with buprenorphine injection misuse among stabilised BMT patients [6].
  • Well-being was assessed using measures of depressive symptoms (CESD), intrusive thoughts (IES), cancer worries, and self-esteem [7].

High impact information on LIPA


Chemical compound and disease context of LIPA


Biological context of LIPA


Anatomical context of LIPA


Associations of LIPA with chemical compounds

  • LIPA metabolises cholesterol esters, which are transported by the cholesteryl ester transport protein CETP [21].
  • CONCLUSION: These preliminary anecdotal findings in a CESD patient with novel LIPA mutations support the longer term safety of statins in an adolescent patient and provide new data about the potential efficacy and tolerability of ezetimibe in this patient group [22].
  • Lovastatin therapy in CESD appears to be clinically beneficial and has complex effects on lipid metabolism that may include a dominant inhibitory effect on hepatic lipoprotein production, posttranscriptionally mediated induction of the LDL receptor, and alterations of LDL particles that interfere with their clearance by the LDL receptor in vivo [10].
  • However, the phenotype of the homozygous propositus is more severe compared with the previously described case, indicating that no direct relationship exists between the genotype or residual LAL activity and the precise cholesterol or triglyceride levels in a given patient [23].
  • Heterologous expression of E8SJM LAL in insect cells gave an LAL with low catalytic activity toward cholesteryl oleate and triolein [24].

Other interactions of LIPA


Analytical, diagnostic and therapeutic context of LIPA

  • HCV genotyping was carried out in all patients using commercial single PCR and LIPA procedures [16].
  • HCV geno- and subtyping was carried out using the Inno line probe assay (Inno LIPA, Innogenetics, Zwijnaarde, Belgium) in 87 patients positive by HCV RT PCR [28].
  • Similar distribution of LAL protein was observed by immunofluorescence stain [29].
  • Immunoblotting of normal LAL expressed in HeLa cells revealed four major molecular forms, at least two of high molecular mass (54 and 50-51 kDa) and two of low molecular mass (42 and 43 kDa) [30].
  • This protocol was initiated in the HIV Epidemiological Research study (HERS) study when a woman's CD4 cell count fell to < 100 x 10(6) cells/l. Immune function (CD4), viral load status and depression severity (CESD) were also assessed semi-annually, along with an interview to determine medication intake and illicit drug use [31].


  1. A new mutation (LIPA Tyr22X) of lysosomal acid lipase gene in a Japanese patient with Wolman disease. Fujiyama, J., Sakuraba, H., Kuriyama, M., Fujita, T., Nagata, K., Nakagawa, H., Osame, M. Hum. Mutat. (1996) [Pubmed]
  2. Assignment of LIPA, associated with human acid lipase deficiency, to human chromosome 10 and comparative assignment to mouse chromosome 19. Koch, G., Lalley, P.A., McAvoy, M., Shows, T.B. Somatic Cell Genet. (1981) [Pubmed]
  3. Resistance profiles to antiretroviral drugs in HIV-1 drug-naive patients in Argentina. Kijak, G.H., Pampuro, S.E., Avila, M.M., Zala, C., Cahn, P., Wainberg, M.A., Salomón, H. Antivir. Ther. (Lond.) (2001) [Pubmed]
  4. Lysosomal acid lipase deficiency: correction of lipid storage by adenovirus-mediated gene transfer in mice. Du, H., Heur, M., Witte, D.P., Ameis, D., Grabowski, G.A. Hum. Gene Ther. (2002) [Pubmed]
  5. Characterization of lysosomal acid lipase by site-directed mutagenesis and heterologous expression. Sheriff, S., Du, H., Grabowski, G.A. J. Biol. Chem. (1995) [Pubmed]
  6. Evaluation of buprenorphine maintenance treatment in a French cohort of HIV-infected injecting drug users. Carrieri, M.P., Rey, D., Loundou, A., Lepeu, G., Sobel, A., Obadia, Y. Drug and alcohol dependence. (2003) [Pubmed]
  7. BRCA1/2 testing in hereditary breast and ovarian cancer families: effectiveness of problem-solving training as a counseling intervention. McInerney-Leo, A., Biesecker, B.B., Hadley, D.W., Kase, R.G., Giambarresi, T.R., Johnson, E., Lerman, C., Struewing, J.P. Am. J. Med. Genet. A (2004) [Pubmed]
  8. A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease. Klima, H., Ullrich, K., Aslanidis, C., Fehringer, P., Lackner, K.J., Schmitz, G. J. Clin. Invest. (1993) [Pubmed]
  9. Suppression of apolipoprotein B production during treatment of cholesteryl ester storage disease with lovastatin. Implications for regulation of apolipoprotein B synthesis. Ginsberg, H.N., Le, N.A., Short, M.P., Ramakrishnan, R., Desnick, R.J. J. Clin. Invest. (1987) [Pubmed]
  10. Cholesteryl ester storage disease: complex molecular effects of chronic lovastatin therapy. Levy, R., Ostlund, R.E., Schonfeld, G., Wong, P., Semenkovich, C.F. J. Lipid Res. (1992) [Pubmed]
  11. A novel variant of lysosomal acid lipase (Leu336-->Pro) associated with acid lipase deficiency and cholesterol ester storage disease. Seedorf, U., Wiebusch, H., Muntoni, S., Christensen, N.C., Skovby, F., Nickel, V., Roskos, M., Funke, H., Ose, L., Assmann, G. Arterioscler. Thromb. Vasc. Biol. (1995) [Pubmed]
  12. Cysteine residues in human lysosomal acid lipase are involved in selective cholesteryl esterase activity. Pagani, F., Pariyarath, R., Stuani, C., Garcia, R., Baralle, F.E. Biochem. J. (1997) [Pubmed]
  13. Retention of cytokine-inducing substances inside high-flux dialyzers. Lufft, V., Mahiout, A., Shaldon, S., Koch, K.M., Schindler, R. Blood Purif. (1996) [Pubmed]
  14. The short-term effects of treatment of chronic periodontitis on circulating levels of endotoxin, C-reactive protein, tumor necrosis factor-alpha, and interleukin-6. Ide, M., Jagdev, D., Coward, P.Y., Crook, M., Barclay, G.R., Wilson, R.F. J. Periodontol. (2004) [Pubmed]
  15. Tri- and tetranucleotide repeat polymorphism in the LIPA gene. Aslanidis, C., Lackner, K.J., Schmitz, G. Hum. Mol. Genet. (1994) [Pubmed]
  16. Unexpected high prevalence of hepatitis C virus genotype 4 in Southern Spain. Sánchez-Quijano, A., Abad, M.A., Torronteras, R., Rey, C., Pineda, J.A., Leal, M., Macias, J., Lissen, E. J. Hepatol. (1997) [Pubmed]
  17. Association analysis of genes involved in cholesterol metabolism located within the linkage region on chromosome 10 and Alzheimer's disease. Riemenschneider, M., Mahmoodzadeh, S., Eisele, T., Klopp, N., Schwarz, S., Wagenpfeil, S., Diehl, J., Mueller, U., Foerstl, H., Illig, T., Kurz, A. Neurobiol. Aging (2004) [Pubmed]
  18. Different missense mutations in histidine-108 of lysosomal acid lipase cause cholesteryl ester storage disease in unrelated compound heterozygous and hemizygous individuals. Ries, S., Büchler, C., Schindler, G., Aslanidis, C., Ameis, D., Gasche, C., Jung, N., Schambach, A., Fehringer, P., Vanier, M.T., Belli, D.C., Greten, H., Schmitz, G. Hum. Mutat. (1998) [Pubmed]
  19. Purification, characterization and molecular cloning of human hepatic lysosomal acid lipase. Ameis, D., Merkel, M., Eckerskorn, C., Greten, H. Eur. J. Biochem. (1994) [Pubmed]
  20. Prostacyclin modulates cholesteryl ester hydrolytic activity by its effect on cyclic adenosine monophosphate in rabbit aortic smooth muscle cells. Hajjar, D.P., Weksler, B.B., Falcone, D.J., Hefton, J.M., Tack-Goldman, K., Minick, C.R. J. Clin. Invest. (1982) [Pubmed]
  21. Convergence of genes implicated in Alzheimer's disease on the cerebral cholesterol shuttle: APP, cholesterol, lipoproteins, and atherosclerosis. Carter, C.J. Neurochem. Int. (2007) [Pubmed]
  22. Treatment of dyslipidemia with lovastatin and ezetimibe in an adolescent with cholesterol ester storage disease. Tadiboyina, V.T., Liu, D.M., Miskie, B.A., Wang, J., Hegele, R.A. Lipids in health and disease [electronic resource]. (2005) [Pubmed]
  23. Homozygosity for a splice junction mutation in exon 8 of the gene encoding lysosomal acid lipase in a Spanish kindred with cholesterol ester storage disease (CESD). Muntoni, S., Wiebusch, H., Funke, H., Ros, E., Seedorf, U., Assmann, G. Hum. Genet. (1995) [Pubmed]
  24. Molecular and enzymatic analyses of lysosomal acid lipase in cholesteryl ester storage disease. Du, H., Sheriff, S., Bezerra, J., Leonova, T., Grabowski, G.A. Mol. Genet. Metab. (1998) [Pubmed]
  25. Perilipin: unique proteins associated with intracellular neutral lipid droplets in adipocytes and steroidogenic cells. Londos, C., Brasaemle, D.L., Gruia-Gray, J., Servetnick, D.A., Schultz, C.J., Levin, D.M., Kimmel, A.R. Biochem. Soc. Trans. (1995) [Pubmed]
  26. Acid cholesteryl ester hydrolase activity of mononuclear leukocytes in patients with non-insulin-dependent diabetes mellitus: studies before and after treatment of diabetes. Onuma, T., Tsutsui, M., Boku, A., Yanada, A., Ochiai, S., Takebe, K. Atherosclerosis (1992) [Pubmed]
  27. Production of bacteriocin-like inhibitory compounds by human fecal Bifidobacterium strains. Collado, M.C., Hernández, M., Sanz, Y. J. Food Prot. (2005) [Pubmed]
  28. Hepatitis C plasma viral load is associated with HCV genotype but not with HIV coinfection. Berger, A., von Depka Prondzinski, M., Doerr, H.W., Rabenau, H., Weber, B. J. Med. Virol. (1996) [Pubmed]
  29. Tissue and cellular specific expression of murine lysosomal acid lipase mRNA and protein. Du, H., Witte, D.P., Grabowski, G.A. J. Lipid Res. (1996) [Pubmed]
  30. Expression of lysosomal acid lipase mutants detected in three patients with cholesteryl ester storage disease. Pagani, F., Garcia, R., Pariyarath, R., Stuani, C., Gridelli, B., Paone, G., Baralle, F.E. Hum. Mol. Genet. (1996) [Pubmed]
  31. Neurocognitive performance enhanced by highly active antiretroviral therapy in HIV-infected women. Cohen, R.A., Boland, R., Paul, R., Tashima, K.T., Schoenbaum, E.E., Celentano, D.D., Schuman, P., Smith, D.K., Carpenter, C.C. AIDS (2001) [Pubmed]
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