Work

Homozygous Mutation in Human Serum Albumin and Its Implication on Thyroid Tests

Year: 2018

Type: article

Abstract: An individual with familial dysalbuminemic hyperthyroxinemia (FDH) due to a homozygous mutation (c.653G>A, p.R218H) in the human serum albumin (HSA) gene is reported. The patient was identified during evaluation of abnormal thyroid tests in a large family with multiple levels of consanguinity. He showed a greater increase in total thyroxine (T4) relative to that observed in heterozygous family members. The higher affinity of mutant HSA for T4, together with the large molar excess of HSA relative to thyroid hormones in serum, results in preferential association of T4 with the mutant rather than wild-type HSA in heterozygous individuals. The twofold greater amount of T4 bound to the mutant HSA in the homozygote, relative to heterozygotes, is an adaptive requirement to maintain a normal free T4 concentration.

Source: Thyroid

DOI: 10.1089/thy.2017.0564

Authors: Mizuho S. Mimoto, Anara Karaca, Neal Scherberg, Alexandra M. Dumitrescu, Samuel Refetoff

Institutions: University of Chicago, Harvard University, Massachusetts General Hospital

Language: English

Topic: Protein Interaction Studies and Fluorescence Analysis

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases