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KMID : 0858620050090010043
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Korean Journal of Audiology
2005 Volume.9 No. 1 p.43 ~ p.49
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Mutation of β2-glycoprotein I at Codon 306 and 316 in Patients with Sudden Sensorineural Hearing Loss
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Cui Bo-Yi
Byun Jae-Yong
Kim Sung-Wan
Cha Chang-Il
Kim Young-Il
Yeo Seung-Geun
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Abstract
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Background and Objectives: β2-glycoprotein I (β2GPI) binds to a variety of negatively charged substrates including phospholipids, lipoproteins and DNA and behaves as an anticoagulant. This study was performed to investigate the frequencies of mutations of codon 306 in exon 7 and codon 316 in exon 8 of β2-glycoprotein I in patients with sudden sensorineural hearing loss (SSNHL), and to analyze and compare clinical and audiologic features of such mutations.
Materials and Methods: 46 consecutive patients (22 women and 24 men) who met all of the diagnostic criteria of SSNHL were included in this study. 11 healthy peoples were used for control subjects. Pure-tone audiogram, triglyceride, cholesterol, glucose and blood coagulation test (PLT, PT, APTT) were measured. Genomic DNA from each patient was isolated from whole blood and Exons 7 and 8 of β2GPI which encode for its fifth domain were amplified by polymerase chain reaction. The presence of mutations was determined by restriction digestion and DNA sequencing analysis.
Results: From a total of 46 patients with SSNHL in this study, we found that 8.7% (4 patients) were heterozygous for the mutation at exon 8, and the mutation at exon 7 was not found. No homozygous subjects were found for the mutation and no mutations were also found in control subjects. 4 patients were heterozygous for exon 8 (codon 316) mutation, 2 were profound hearing loss and 2 were moderate hearing loss. All of them were less than 15 dB in hearing recovery.
Conclusion: In this study, 4 patients heterozygous for exon 8 (codon 316) mutation in patients with SSNHL were discovered. To determine the association of SSNHL and β2-glycoprotein I, it is considered that more studies with more subjects need to be conducted.
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KEYWORD
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Sudden sensorineural hearing loss, β2-glycoprotein I, Mutation.
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