Atherosclerosis
Volume 206, Issue 2 , Pages 346-348 , October 2009

Two novel frame shift mutations in lecithin:cholesterol acyltransferase (LCAT) gene associated with a familial LCAT deficiency phenotype

  • Cheol Whee Park

      Affiliations

    • Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul 137-701, Republic of Korea
    • These authors contributed equally to this work.
    • ,
  • Mi-Hyun Lim

      Affiliations

    • Department of Biochemistry, College of Medicine, The Catholic University of Korea, 505 Banpo-Dong, Seocho-gu, Seoul 137-701, Republic of Korea
    • These authors contributed equally to this work.
    • ,
  • Dong-Ye Youn

      Affiliations

    • Department of Biochemistry, College of Medicine, The Catholic University of Korea, 505 Banpo-Dong, Seocho-gu, Seoul 137-701, Republic of Korea
    • ,
  • Seung Eun Jung

      Affiliations

    • Department of Medical Science, The Graduate School, Yonsei University, Seoul 120-752, Republic of Korea
    • ,
  • Sungjin Chung

      Affiliations

    • Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul 137-701, Republic of Korea
    • ,
  • Young Soo Ahn

      Affiliations

    • Brain Korea 21 Project for Medical Science, Brain Research Institute and Department of Pharmacy, Yonsei University College of Medicine, Seoul 120-752, Republic of Korea
    • ,
  • Yoon Sik Chang

      Affiliations

    • Department of Internal Medicine, College of Medicine, The Catholic University of Korea, Seoul 137-701, Republic of Korea
    • ,
  • Jeong-Hwa Lee

      Affiliations

    • Department of Biochemistry, College of Medicine, The Catholic University of Korea, 505 Banpo-Dong, Seocho-gu, Seoul 137-701, Republic of Korea
    • Corresponding Author InformationCorresponding author. Tel.: +82 2 590 1180; fax: +82 2 596 4435.

Received 23 February 2009

References 

  1. Glomset JA. The mechanism of the plasma cholesterol esterification reaction: plasma fatty acid transferase. Biochim Biophys Acta. 1962;65:128–135
  2. Aron L, Jones S, Fielding CJ. Human plasma lecithin-cholesterol acyltransferase. Characterization of cofactor-dependent phospholipase activity. J Biol Chem. 1978;253:7220–7226
  3. Klein HG, Lohse P, Pritchard PH, et al. Two different allelic mutations in the lecithin-cholesterol acyltransferase gene associated with the fish eye syndrome. Lecithin-cholesterol acyltransferase (Thr123→Ile) and lecithin-cholesterol acyltransferase (Thr347→Met). J Clin Invest. 1992;89:499–506
  4. Stokke KT, Bjerve KS, Blomhoff JP, et al. Familial lecithin:cholesterol acyltransferase deficiency. Studies on lipid composition and morphology of tissues. Scand J Clin Lab Invest. 1974;137(Suppl):93–100
  5. Murayama N, Asano Y, Hosoda S, et al. Decreased sodium influx and abnormal red cell membrane lipids in a patient with familial plasma lecithin: cholesterol acyltransferase deficiency. Am J Hematol. 1984;16:129–137
  6. Gjone E. Familial lecithin: cholesterol acyltransferase (LCAT) deficiency. An updated review Spring 1988. Ophthalmic Paediatr Genet. 1988;9:167–169
  7. Teisberg P, Gjone E, Olaisen B. Genetics of LCAT (lecithin: cholesterol acyltransferase) deficiency. Ann Hum Genet. 1975;38:327–331
  8. McLean J, Wion K, Drayna D, et al. Human lecithin-cholesterol acyltransferase gene: complete gene sequence and sites of expression. Nucleic Acids Res. 1986;14:9397–9406
  9. Kuivenhoven JA, Pritchard H, Hill J, et al. The molecular pathology of lecithin:cholesterol acyltransferase (LCAT) deficiency syndromes. J Lipid Res. 1997;38:191–205
  10. Skretting G, Prydz H. An amino acid exchange in exon I of the human lecithin: cholesterol acyltransferase (LCAT) gene is associated with fish eye disease. Biochem Biophys Res Commun. 1992;182:583–587
  11. Bender BU, Quaschning T, Neumann HP, et al. A novel frameshift mutation of the lecithin:cholesterol acyltransferase (LCAT) gene associated with renal failure in familial LCAT deficiency. Clin Chem Lab Med. 2007;45:483–486
  12. Yang CY, Manoogian D, Pao Q, et al. Lecithin:cholesterol acyltransferase. Functional regions and a structural model of the enzyme. J Biol Chem. 1987;262:3086–3091
  13. Funke H, von Eckardstein A, Pritchard PH, et al. Genetic and phenotypic heterogeneity in familial lecithin: cholesterol acyltransferase (LCAT) deficiency. Six newly identified defective alleles further contribute to the structural heterogeneity in this disease. J Clin Invest. 1993;91:677–683
  14. Moriyama K, Sasaki J, Arakawa F, et al. Two novel point mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in LCAT deficiency: LCAT (G873 deletion) and LCAT (Gly344-->Ser). J Lipid Res. 1995;36:2329–2343

PII: S0021-9150(09)00154-3

doi: 10.1016/j.atherosclerosis.2009.03.001

Atherosclerosis
Volume 206, Issue 2 , Pages 346-348 , October 2009

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