A Point Mutation in the Human Serum Albumin Gene Results in Familial Dysalbuminaemic Hyperthyroxinaemia

Overview

Journal J Med Genet

Specialty Genetics

Date 1994 May 1

PMID 8064810

Citations 19

Authors

C E PETERSEN

A G Scottolini

L R Cody

M Mandel

N Reimer

N V Bhagavan

Affiliations

Soon will be listed here.

Abstract

Using DNA samples obtained from two unrelated patients, diagnosed as having familial dysalbuminaemic hyperthyroxinaemia (FDH), exons 1-14 which span the entire coding region of the human serum albumin (HSA) gene were amplified by the polymerase chain reaction. The sequence of each of the 14 DNA fragments was then determined. In each case a point mutation was identified at nucleotide 653 which causes an Arg to His substitution at amino acid position 218. The substitution was confirmed by amino acid sequencing of a mutant peptide resulting from tryptic digestion of the protein. Abnormal affinity of FDH HSA for a thyroxine (T4) analogue was verified by an adaptation of the procedure used in routine free T4 measurement. The location of the mutation is discussed in relation to other studies on the binding properties of HSA.

Citing Articles

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References

Arai K, Ishioka N, Huss K, Madison J, Putnam F . Identical structural changes in inherited albumin variants from different populations. Proc Natl Acad Sci U S A. 1989; 86(2):434-8. PMC: 286484. DOI: 10.1073/pnas.86.2.434. View

Bos O, Remijn J, Fischer M, Wilting J, Janssen L . Location and characterization of the warfarin binding site of human serum albumin. A comparative study of two large fragments. Biochem Pharmacol. 1988; 37(20):3905-9. DOI: 10.1016/0006-2952(88)90072-x. View

Arai K, Madison J, Shimizu A, Putnam F . Point substitutions in albumin genetic variants from Asia. Proc Natl Acad Sci U S A. 1990; 87(1):497-501. PMC: 53291. DOI: 10.1073/pnas.87.1.497. View

Kragh-Hansen U, Minchiotti L, Brennan S, Sugita O . Hormone binding to natural mutants of human serum albumin. Eur J Biochem. 1990; 193(1):169-74. DOI: 10.1111/j.1432-1033.1990.tb19319.x. View

Galliano M, Minchiotti L, Porta F, Rossi A, Ferri G, Madison J . Mutations in genetic variants of human serum albumin found in Italy. Proc Natl Acad Sci U S A. 1990; 87(22):8721-5. PMC: 55031. DOI: 10.1073/pnas.87.22.8721. View

Moses A, Rosen H, Moller D, TSUZAKI S, Haddow J, Lawlor J . A point mutation in transthyretin increases affinity for thyroxine and produces euthyroid hyperthyroxinemia. J Clin Invest. 1990; 86(6):2025-33. PMC: 329840. DOI: 10.1172/JCI114938. View

Kamikubo K, Sakata S, Nakamura S, Komaki T, Miura K . Thyroxine binding to human serum albumin immobilized on sepharose and effects of nonprotein albumin-binding plasma constituents. J Protein Chem. 1990; 9(4):461-5. DOI: 10.1007/BF01024622. View

Sheat J, Peach R, George P . Rapid detection and initial characterization of genetic variants of human serum albumin. Clin Chem. 1991; 37(7):1221-4. View

He X, Carter D . Atomic structure and chemistry of human serum albumin. Nature. 1992; 358(6383):209-15. DOI: 10.1038/358209a0. View

10.

Dughi C, Bhagavan N, Jameson D . Fluorescence investigations of albumin from patients with familial dysalbuminemic hyperthyroxinemia. Photochem Photobiol. 1993; 57(3):416-9. DOI: 10.1111/j.1751-1097.1993.tb02311.x. View

11.

Laemmli U . Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature. 1970; 227(5259):680-5. DOI: 10.1038/227680a0. View

12.

Friedman M, Krull L, Cavins J . The chromatographic determination of cystine and cysteine residues in proteins as s-beta-(4-pyridylethyl)cysteine. J Biol Chem. 1970; 245(15):3868-71. View

13.

Reed R, Feldhoff R, CLUTE O, PETERS Jr T . Fragments of bovine serum albumin produced by limited proteolysis. Conformation and ligand binding. Biochemistry. 1975; 14(21):4578-83. DOI: 10.1021/bi00692a004. View

14.

Tarr G . Improved manual sequencing methods. Methods Enzymol. 1977; 47:335-57. DOI: 10.1016/0076-6879(77)47036-8. View

15.

Lee W, Golden M, Van Herle A, Lippe B, Kaplan S . Inherited abnormal thyroid hormone-binding protein causing selective increase of total serum thyroxine. J Clin Endocrinol Metab. 1979; 49(2):292-9. DOI: 10.1210/jcem-49-2-292. View

16.

Stockigt J, Topliss D, Barlow J, White E, Hurley D, Taft P . Familial euthyroid thyroxine excess: an appropriate response to abnormal thyroxine binding associated with albumin. J Clin Endocrinol Metab. 1981; 53(2):353-9. DOI: 10.1210/jcem-53-2-353. View

17.

Docter R, Bos G, Krenning E, Fekkes D, Visser T, Hennemann G . Inherited thyroxine excess: a serum abnormality due to an increased affinity for modified albumin. Clin Endocrinol (Oxf). 1981; 15(4):363-71. DOI: 10.1111/j.1365-2265.1981.tb00676.x. View

18.

Ruiz M, Rajatanavin R, Young R, Taylor C, Brown R, Braverman L . Familial dysalbuminemic hyperthyroxinemia: a syndrome that can be confused with thyrotoxicosis. N Engl J Med. 1982; 306(11):635-9. DOI: 10.1056/NEJM198203183061103. View

19.

Barlow J, Csicsmann J, White E, Funder J, Stockigt J . Familial euthyroid thyroxine excess: characterization of abnormal intermediate affinity thyroxine binding to albumin. J Clin Endocrinol Metab. 1982; 55(2):244-50. DOI: 10.1210/jcem-55-2-244. View

20.

Borst G, Premachandra B, Burman K, Osburne R, Georges L, Johnsonbaugh R . Euthyroid familial hyperthyroxinemia due to abnormal thyroid hormone-binding protein. Am J Med. 1982; 73(2):283-9. DOI: 10.1016/0002-9343(82)90190-5. View