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[Clinical characteristics and ALB gene mutation analysis of Korean patients with bisalbuminemia].
Korean J Lab Med. 2010 Jun; 30(3):307-11.KJ

Abstract

BACKGROUND

Bisalbuminemia is a hereditary or an acquired condition characterized by the presence of 2 albumin variants with different mobilities on serum protein electrophoresis (SPE). The clinical significance of bisalbuminemia has not been clearly established. However, some regions of the albumin variant may affect the biochemical analysis of biomolecules such as steroid or thyroid hormones by altering their albumin-binding affinities. In this study, we analyzed the clinical manifestations, genetic variations, and the albumin-binding characteristics in Korean patients with bisalbuminemia.

METHODS

We performed SPE for samples from 580 Korean subjects and identified bisalbuminemia on the basis of the results of SPE. The clinical and biochemical characteristics, ALB gene mutations, and the structures of the albumin variants of patients with bisalbuminemia were analyzed.

RESULTS

SPE showed bisalbuminemia in 2 patients. One patient showed a genetic variation known as Nagasaki-1 (Asp293Gly) and the other showed a hitherto unreported missense mutation (c.593A>T; Lys198Ile). In both cases, the serum concentrations of the substances with binding affinity for albumin were not affected, and the mutation sites of the albumin were not located with the protein-binding loci.

CONCLUSIONS

The 2 Korean patients with bisalbuminemia showed genetic variations, including a novel missense mutation. The ALB gene analysis with 3D modeling is useful for determining the nature of bisalbuminemia and for predicting the effects on the albumin-binding affinity of other biochemical compounds.

Authors+Show Affiliations

Department of Laboratory Medicine & Genetics, Soonchunhyang University Bucheon Hospital, Bucheon, Korea.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

kor

PubMed ID

20603593

Citation

Kim, Yong Hyun, et al. "[Clinical Characteristics and ALB Gene Mutation Analysis of Korean Patients With Bisalbuminemia]." The Korean Journal of Laboratory Medicine, vol. 30, no. 3, 2010, pp. 307-11.
Kim YH, Lee YW, Jeon BR, et al. [Clinical characteristics and ALB gene mutation analysis of Korean patients with bisalbuminemia]. Korean J Lab Med. 2010;30(3):307-11.
Kim, Y. H., Lee, Y. W., Jeon, B. R., Lee, Y. K., Shin, H. B., Kang, D. H., Park, S. K., Hong, D. S., Lee, S. T., Kim, J. W., & Ki, C. S. (2010). [Clinical characteristics and ALB gene mutation analysis of Korean patients with bisalbuminemia]. The Korean Journal of Laboratory Medicine, 30(3), 307-11. https://doi.org/10.3343/kjlm.2010.30.3.307
Kim YH, et al. [Clinical Characteristics and ALB Gene Mutation Analysis of Korean Patients With Bisalbuminemia]. Korean J Lab Med. 2010;30(3):307-11. PubMed PMID: 20603593.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Clinical characteristics and ALB gene mutation analysis of Korean patients with bisalbuminemia]. AU - Kim,Yong Hyun, AU - Lee,Yong Wha, AU - Jeon,Byung Ryul, AU - Lee,You Kyoung, AU - Shin,Hee Bong, AU - Kang,Dong Hee, AU - Park,Sung Kyu, AU - Hong,Dae Sik, AU - Lee,Seung Tae, AU - Kim,Jong Won, AU - Ki,Chang Seok, PY - 2010/7/7/entrez PY - 2010/7/7/pubmed PY - 2010/8/13/medline SP - 307 EP - 11 JF - The Korean journal of laboratory medicine JO - Korean J Lab Med VL - 30 IS - 3 N2 - BACKGROUND: Bisalbuminemia is a hereditary or an acquired condition characterized by the presence of 2 albumin variants with different mobilities on serum protein electrophoresis (SPE). The clinical significance of bisalbuminemia has not been clearly established. However, some regions of the albumin variant may affect the biochemical analysis of biomolecules such as steroid or thyroid hormones by altering their albumin-binding affinities. In this study, we analyzed the clinical manifestations, genetic variations, and the albumin-binding characteristics in Korean patients with bisalbuminemia. METHODS: We performed SPE for samples from 580 Korean subjects and identified bisalbuminemia on the basis of the results of SPE. The clinical and biochemical characteristics, ALB gene mutations, and the structures of the albumin variants of patients with bisalbuminemia were analyzed. RESULTS: SPE showed bisalbuminemia in 2 patients. One patient showed a genetic variation known as Nagasaki-1 (Asp293Gly) and the other showed a hitherto unreported missense mutation (c.593A>T; Lys198Ile). In both cases, the serum concentrations of the substances with binding affinity for albumin were not affected, and the mutation sites of the albumin were not located with the protein-binding loci. CONCLUSIONS: The 2 Korean patients with bisalbuminemia showed genetic variations, including a novel missense mutation. The ALB gene analysis with 3D modeling is useful for determining the nature of bisalbuminemia and for predicting the effects on the albumin-binding affinity of other biochemical compounds. SN - 1598-6535 UR - https://www.unboundmedicine.com/medline/citation/20603593/[Clinical_characteristics_and_ALB_gene_mutation_analysis_of_Korean_patients_with_bisalbuminemia]_ L2 - http://www.annlabmed.org/journal/viewJournal.html?year=2010&vol=30&page=307 DB - PRIME DP - Unbound Medicine ER -