Skip to main content

ORIGINAL RESEARCH article

Front. Endocrinol.
Sec. Clinical Diabetes
Volume 15 - 2024 | doi: 10.3389/fendo.2024.1511101
This article is part of the Research Topic Digital Technology in the Management and Prevention of Diabetes: Volume II View all 4 articles

Evaluation of the MDM-Score System for Screening Mitochondrial Diabetes Mellitus in Newly Diagnosed Diabetes Patients: A Multi-Center Cohort Study in China

Provisionally accepted
Fuhui Ma Fuhui Ma 1Jing Zhao Jing Zhao 2Yan Chen Yan Chen 3Yunzhi Luo Yunzhi Luo 4*Yuxuan Du Yuxuan Du 5*Xia Li Xia Li 3Tao Xu Tao Xu 4*Zhiguang Zhou Zhiguang Zhou 3*Kaixin Zhou Kaixin Zhou 5*Yanying Guo Yanying Guo 4*
  • 1 Graduate School, Xinxiang Medical University, Xinxiang, Henan Province, China
  • 2 Clinical Laboratory Center, Xi'an People's Hospital Xi'an Fourth Hospital, Affiliated People's Hospital of Northwest University, Xi'an, China
  • 3 National Clinical Research Center for Metabolic Diseases, The Second Xiangya Hospital of Central South University, Changsha, Hunan,, China
  • 4 Department of Endocrinology and Metabolism, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China
  • 5 Guangzhou Laboratory, Guangzhou, Guangzhou, China

The final, formatted version of the article will be published soon.

    Objective: To evaluate the performance of MDM-score system in screening for mitochondrial diabetes mellitus (MDM) with m.3243A>G mutation in newly diagnosed diabetes.Methods: From 2015 to 2017, we recruited 5130 newly diagnosed diabetes patients distributed in 46 hospitals in China. Their DNA samples were subjected to targeted sequencing of 37 genes, including the mitochondrial m.3243A>G mutation.Based on this cohort, we analyzed the clinical characteristics of MDM and type 2 diabetes (T2DM), and evaluated the overall efficacy of the MDM-score through ROC curve analysis.Results: MDM patients were diagnosed at a younger age (P =0.002) than T2DM patients. They also had a higher proportion of females, lower body mass index, lower height , lower weight, lower systolic blood pressure, and lower fasting C-peptide (P < 0.05). Among 48 MDM patients, the m.3243A>G heteroplasmy level was higher in MDM score ≥ 3 than in MDM score < 3 (P = 0.0281). There were 23 cases with MDM-score ≥ 3 in clinical T2DM, with an AUC of 0.612 (95% CI: 0.540-0.683, P <0.001) on ROC curve analysis, yielding sensitivity of 47.9%, specificity of 74.4%, positive predictive value of 1.9%, and negative predictive value of 99.3%. This suggests that almost half of MDM patients can be identified by the MDM score system.The MDM-score is effective for screening MDM in newly diagnosed clinical T2DM, and some metrics may help to improve its performance in the future, thereby assisting clinicians in identifying suitable patients for genetic testing, and preventing misdiagnosis and mismanagement of MDM patients.

    Keywords: Mitochondrial diabetes mellitus, type 2 diabetes, MDM-score, screening, Genetic Testing, m.3243A>G, Heteroplasmy

    Received: 14 Oct 2024; Accepted: 03 Dec 2024.

    Copyright: © 2024 Ma, Zhao, Chen, Luo, Du, Li, Xu, Zhou, Zhou and Guo. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence:
    Yunzhi Luo, Department of Endocrinology and Metabolism, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China
    Yuxuan Du, Guangzhou Laboratory, Guangzhou, Guangzhou, China
    Tao Xu, Department of Endocrinology and Metabolism, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China
    Zhiguang Zhou, National Clinical Research Center for Metabolic Diseases, The Second Xiangya Hospital of Central South University, Changsha, Hunan,, China
    Kaixin Zhou, Guangzhou Laboratory, Guangzhou, Guangzhou, China
    Yanying Guo, Department of Endocrinology and Metabolism, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi, China

    Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.