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Journal of Diabetes Research
Volume 2017, Article ID 4683857, 7 pages
https://doi.org/10.1155/2017/4683857
Research Article

Rapid Detection of the mt3243A > G Mutation Using Urine Sediment in Elderly Chinese Type 2 Diabetic Patients

1The Metabolic Diseases Biobank, Center for Translational Medicine, Shanghai Key Laboratory of Diabetes, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai 200233, China
2Department of Endocrinology and Metabolism, Shanghai Key Laboratory of Diabetes, The Metabolic Diseases Biobank, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai 200233, China
3Department of Otolaryngology Head and Neck Surgery, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai 200233, China
4Department of Neurology, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai 200233, China
5Department of Ophthalmology, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai 200233, China
6Department of Ophthalmology, Shanghai First People’s Hospital Affiliated to Shanghai JiaoTong University School of Medicine, Shanghai 200080, China

Correspondence should be addressed to Congrong Wang; nc.ude.utjs@gnawrc and Weiping Jia; nc.ude.utjs@aijpw

Received 12 January 2017; Accepted 15 May 2017; Published 21 June 2017

Academic Editor: Liping Yu

Copyright © 2017 Yinan Zhang et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Objective. In this study, we aimed to identify mt3243A > G mutation carriers in a group of Chinese elderly type 2 diabetic patients by a rapid and noninvasive diagnostic system. Methods. DNA was extracted from blood, saliva, and urine sediment samples. The mutation screening and quantitation of heteroplasmy were performed by high-resolution melting (HRM) curve and pyrosequencing, respectively. Patients with mt3243A > G mutation underwent a detailed audiometric, ophthalmologic, neurological, and cardiac examination. Results. Two patients (2/1041) carrying the mt3243A > G mutation were detected among all type 2 diabetic patients. In patient 1, the heteroplasmy was 0.8%, 2.8%, and 14.7% in peripheral blood leukocytes, saliva, and urine sediment, respectively. In patient 2, the heteroplasmy was 5.3%, 8.4%, and 37.7% in peripheral blood leukocytes, saliva, and urine sediment, respectively. Both of the two patients showed hearing impairment. Abnormal ophthalmologic conditions and hyperintensity on T2-weighted magnetic resonance images were showed in patient 1. Conclusion. The occurrence of mt3243 A > G mutation was 0.2% in Chinese elderly type 2 diabetic patients. Moreover, detection of mt3243 A > G mutation in urine sediment with high-resolution melting (HRM) curve and pyrosequencing is feasible in molecular genetic diagnosis.