Translational Research
Volume 155, Issue 3 , Pages 118-119 , March 2010

Albumin Benkovac (c.1175 A > G; p.Glu392Gly): a novel genetic variant of human serum albumin

  • Gianluca Caridi

      Affiliations

    • Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova, Italy
    • ,
  • Monica Dagnino

      Affiliations

    • Laboratory on Pathophysiology of Uremia, Istituto Giannina Gaslini IRCCS, Genova, Italy
    • ,
  • Ana-Maria Simundic

      Affiliations

    • University Department of Chemistry, Sestre Milosrdnice University Hospital, Zagreb, Croatia
    • ,
  • Marijana Miler

      Affiliations

    • University Department of Chemistry, Sestre Milosrdnice University Hospital, Zagreb, Croatia
    • ,
  • Vladimir Stancic

      Affiliations

    • University Department of Internal Medicine, Sestre Milosrdnice University Hospital, Zagreb, Croatia
    • ,
  • Monica Campagnoli

      Affiliations

    • Department of Biochemistry, “A.Castellani,” University of Pavia, Pavia, Italy
    • ,
  • Monica Galliano

      Affiliations

    • Department of Biochemistry, “A.Castellani,” University of Pavia, Pavia, Italy
    • ,
  • Lorenzo Minchiotti

      Affiliations

    • Department of Biochemistry, “A.Castellani,” University of Pavia, Pavia, Italy
    • Corresponding Author InformationReprint requests: Lorenzo Minchiotti, Department of Biochemistry, “A.Castellani,” University of Pavia, 27100 Pavia, Italy

Received 7 September 2009 ,Accepted 3 October 2009.

References 

  1. Minchiotti L, Galliano M, Kragh-Hansen U, Peters T. Mutations and polymorphisms of the gene of the major human blood protein, serum albumin. Hum Mutat. 2008;29:1007–1016
  2. In:  Peters T editors. All about albumin: biochemistry, genetics and medical applications. San Diego, CA: Academic Press; 1996;p. 432
  3. Bellomo A, Mancinella M, Troisi G, Marigliano V. A rare familiar case of hereditary bisalbuminemia and diabetic predisposition: a possible predictive link?. Arch Gerontol Geriatr. 2009;[E-pub ahead of print]
  4. Peters T Jr. The albumin website. http://www.albumin.org. Accessed July 16, 2009.
  5. Simundic AM, Miler M, Nikolac N, et al. Bisalbuminemia in a male Croatian patient with sarcoidosis. Biochemia Medica. 2009;19:95–100
  6. Campagnoli M, Sala A, Romano A, et al. Novel nonsense mutation causes analbuminemia in a Moroccan family. Clin Chem. 2005;51:227–229
  7. Minghetti PP, Ruffner DE, Kuang WJ, et al. Molecular structure of the human albumin gene is revealed by nucleotide sequence within q11-22 of chromosome 4. J Biol Chem. 1986;261:6747–6757
  8. Kragh-Hansen U, Campagnoli M, Dodig S, et al. Structural analysis and fatty acid-binding properties of two Croatian variants of human serum albumin. Clin Chim Acta. 2004;349:105–112
  9. He XM, Carter DC. Atomic structure and chemistry of human serum albumin. Nature. 1992;358:209–215
  10. Kragh-Hansen U, Watanabe H, Nakajou K, Iwao Y, Otagiri M. Chain length-dependent binding of fatty acid anions to human serum albumin studied by site-directed mutagenesis. J Mol Biol. 2006;363:702–712

 Supported by Grant FIRB 2003 RBNE03B8KK from the MIUR, Ministero dell' Istruzione, dell' Università e della Ricerca (Rome, Italy) and by the Cariplo Foundation. G.C. and M.D. acknowledge the support of Renal Child Foundation.

PII: S1931-5244(09)00300-4

doi: 10.1016/j.trsl.2009.10.001

Translational Research
Volume 155, Issue 3 , Pages 118-119 , March 2010

Article Tools

* Image Usage & Resolution