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Structural analysis and fatty acid-binding properties of two Croatian variants of human serum albumin
- Source :
- Kragh-Hansen, U, Campagnoli, M, Dodig, S, Nielsen, H, Benko, B, Raos, M, Cesati, R, Sala, A, Galliano, M & Minchiotti, L 2004, ' Structural analysis and fatty acid-binding properties of two Croatian variants of human serum albumin ', Clin. Chim. Acta., vol. 349, pp. 105-112 .
- Publication Year :
- 2004
- Publisher :
- Elsevier BV, 2004.
-
Abstract
- Background The aim of the present work was to characterize the molecular defects of a slow-migrating (albumin Zagreb) and a fast-migrating (albumin Krapina) genetic variant of human serum albumin detected in heterozygous persons living in Croatia and to elucidate the fatty acid-binding properties of the two alloalbumins. Methods Purification and structural identification of the variants were performed by conventional protein chemistry methods, whereas types and amounts of albumin-bound, endogenous fatty acids were determined by gas chromatography. Results Protein sequencing established that albumin Zagreb is a proalbumin variant (−1Arg→Gln), and that albumin Krapina is due to a mutation within the mature polypeptide chain (573Lys→Glu). The gas chromatographic results showed that the fatty acid-binding properties of the proalbumin variant are normal, while the amino acid substitution in position 573 resulted in a general decrease of fatty acid binding. Conclusions The structural defects of the first alloalbumins, detected by routine clinical electrophoresis among the Croatian population, were characterized. Albumin Zagreb is caused by a hot-spot mutation occurring in a CpG sequence in the albumin gene. It is commonly assumed that bisalbuminaemia has no direct clinical relevance. However, the present study suggests that naturally occurring mutations can affect the ligand-binding properties of human serum albumin.
- Subjects :
- Male
Chromatography, Gas
Croatia
Clinical Biochemistry
Population
Serum albumin
Plasma protein binding
Fatty Acids, Nonesterified
Ligands
Biochemistry
Albumins
Fatty acid binding
medicine
Humans
Child
education
Serum Albumin
education.field_of_study
albumin Zagreb
albumin Krapina
albuminska varijanta
proalbuminska varijanta
točkasta mutacija
bisalbuminemija
vezanje masnih kiselina
plinska kromatografija
biology
Point mutation
Biochemistry (medical)
Albumin
Genetic Variation
Infant
Electrophoresis, Cellulose Acetate
General Medicine
Blood Protein Electrophoresis
Human serum albumin
medicine.disease
biology.protein
Isoelectric Focusing
Bisalbuminemia
Protein Binding
medicine.drug
Subjects
Details
- ISSN :
- 00098981
- Volume :
- 349
- Database :
- OpenAIRE
- Journal :
- Clinica Chimica Acta
- Accession number :
- edsair.doi.dedup.....92d7fc7e047e664001ecf91765e82e6a