Bisalbuminaemia due to novel mutation at a critical residue involved in recycling; Albumin Lyon (510His→Arg)

Clinical Biochemistry
Stephen O BrennanMichel Hanss

Abstract

To define the underlying cause of bisalbuminaemia in an individual presenting with spontaneous venous thrombosis. Plasma was examined by electrospray time-of-flight mass spectrometry (TOF MS) to assess albumin mutations and to quantify variant expression level. Tryptic peptide mapping and DNA sequencing were used to precisely define the mutation. Whole protein MS indicated a 19Da increase in the mass of 50% of the albumin molecules suggesting a His→Arg substitution. A novel heterozygous 510His→Arg mutation was identified by peptide mass mapping and confirmed by DNA sequencing of exon 12 of the albumin gene. The nature and location of the mutation suggest it would have no direct influence on haemostasis through altered warfarin binding or increased fibrinogen attachment and it appears to be incidental to the thrombotic phenotype. However the highly conserved His510 residue is recognised as being of critical importance in albumin recycling through interaction with its savaging neonatal Fc receptor. The normal albumin level of 41.1g/l and the coequal expression of albumin Lyon demonstrate that the conservative 510His→Arg substitution does not interfere with the pH dependant capture and release of albumin by the receptor.

References

Apr 4, 2001·The Journal of Biological Chemistry·I PetitpasS Curry
May 7, 2008·Human Mutation·Lorenzo MinchiottiTheodore Peters
Dec 17, 2009·Clinical Biochemistry·Jan Terje AndersenInger Sandlie
Apr 15, 2010·Thrombosis and Haemostasis·Aaron R FolsomMary Cushman
Apr 6, 2013·Biochimica Et Biophysica Acta·Ulrich Kragh-HansenTheodore Peters
Jan 5, 2014·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Yu-Min ShenStephen Brennan
Oct 26, 2014·The Journal of Biological Chemistry·Kine Marita Knudsen SandJan Terje Andersen
Dec 3, 2014·Clinica Chimica Acta; International Journal of Clinical Chemistry·Stephen O BrennanHoward C Potter
Jun 18, 2015·Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis·Stephen O BrennanAndrew Grigg

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Citations

Apr 19, 2016·Clinica Chimica Acta; International Journal of Clinical Chemistry·Stephen O BrennanPeter M George

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