Clinical and genetic characteristics of young-onset diabetes with concurrent mitochondrial m.3243A>G and CEL gene mutations - A case report

Sep 28, 2026

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BACKGROUND: Only a few reports describe diabetes mellitus with concurrent mutations in mitochondrial MT-TL1 and CEL genes, and racial differences may alter mutation frequency and disease course. This case report characterizes young-onset diabetes associated with m.3243A>G in MT-TL1 and c.1336G>A in CEL, emphasizing clinical features, genetic mechanisms, and diagnostic complexity. The objective is to support precise typing, genetic counseling, and personalized care while broadening evidence for rare monogenic diabetes variants. CASE SUMMARY and CONCLUSION summarize findings and testing rationale.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages9

Reading Time23 min

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Abstract

Background

Case Summary

Conclusion

Introduction

| W | J | D | World Journal of
Diabetes | | --- | --- | --- | --- | Submit a Manuscript: [https://www.f6publishing.com](https://www.f6publishing.com) World J Diabetes 2025 December 15; 16(12): 113238 DOI: 10.4239/wjd.v16.i12.113238 ISSN 1948-9358 (online) CASE REPORT Clinical and genetic characteristics of young-onset diabetes with concurrent mitochondrial m.3243A>G and CEL gene mutations: A case report Xiao-Dan Che, Zheng-Liang Wei, Wuriliga Gong, Ling Qin, Shuang Liu, Yuan-Hui Jin, He-Yuan Wang Specialty type: Endocrinology and metabolism Provenance and peer review: Unsolicited article; Externally peer reviewed. Peer-review model: Single blind Peer-review report’s classification Scientific Quality: Grade A, Grade A, Grade A, Grade B, Grade B, Grade B Novelty: Grade A, Grade A, Grade A, Grade B, Grade B Creativity or Innovation: Grade A, Grade B, Grade B, Grade B, Grade B Scientific Significance: Grade A, Grade B, Grade B, Grade B, Grade B P-Reviewer: Alvarez M, MD, Professor, Colombia; Chen HD, MD, PhD, Director, Professor, China; Horowitz M, MD, PhD, Professor, Australia; Li MH, Professor, China Received: August 21, 2025 Revised: October 10, 2025 Accepted: November 18, 2025 Published online: December 15, 2025 Processing time: 117 Days and 0.6 Hours Xiao-Dan Che, Ling Qin, Shuang Liu, Yuan-Hui Jin, Department of Endocrinology, Meihekou Central Hospital, Meihekou 135000, Jilin Province, China Zheng-Liang Wei, Wuriliga Gong, He-Yuan Wang, Department of Endocrinology and Metabolism, The First Hospital of Jilin University, Changchun 130000, Jilin Province, China Co-first authors: Xiao-Dan Che and Zheng-Liang Wei. Co-corresponding authors: Yuan-Hui Jin and He-Yuan Wang. Corresponding author: He-Yuan Wang, MD, Department of Endocrinology and Metabolism, The First Hospital of Jilin University, No. 1 Xinmin Street, Changchun 130000, Jilin Province, [China.](China. wangheyuan@jlu.edu.cn)[ wangheyuan@jlu.edu.cn](China. wangheyuan@jlu.edu.cn) Abstract BACKGROUND Only a few cases of diabetes mellitus with concurrent mutations in the mitochondrial MT-TL1 and CEL genes have been reported worldwide. Racial differences may influence mutation frequency, the presentation of symptoms, and disease progression. This case report describes the clinical features, potential genetic mechanisms, and diagnostic complexity of young-onset diabetes mellitus with concurrent m.3243A>G mutation in MT-TL1 and c.1336G>A mutation in CEL. The objective is to inform precise typing, genetic counseling, and personalized treatment of monogenic diabetes mellitus, while expanding the evidence base on rare forms of diabetes mellitus. CASE SUMMARY A 30-year-old man, diagnosed with diabetic ketoacidosis six years earlier, presented with poor response to insulin therapy (glycated hemoglobin, 15.35%), marked wasting (body mass index: 15.06 kg/m2), sensorineural deafness, diabetic retinopathy, and peripheral neuropathy. Whole-exome sequencing revealed concurrent mutations: Mitochondrial MT-TL1 m.3243A>G (heteroplasmy 41.76%) and CEL c.1336G>A. Family investigation identified his mother, who also had diabetes, as a carrier of the CEL mutation, and his sister as harboring both mutations without diabetes. WJD [https://www.wjgnet.com](https://www.wjgnet.com) 1 December 15, 2025 Volume 16 Issue 12 Che XD et al. Young-onset diabetes with dual mutations CONCLUSION This case highlights the genetic heterogeneity of monogenic diabetes and expands the known mutational spectrum. Comprehensive genetic testing is recommended to enhance diagnostic accuracy in cases of suspected monogenic diabetes. Key Words: Monogenic diabetes; Genetic heterogeneity; Dual mutations; Precise diagnosis; Mutational spectrum; Case report ©The Author(s) 2025. Published by Baishideng Publishing Group Inc. All rights reserved. Core Tip: This case report describes a young man with diabetes mellitus attributable to concurrent mutation

FAQs

What genetic mutations are reported in this case of young-onset diabetes?

The case involves concurrent mutations: mitochondrial MT-TL1 m.3243A>G and CEL c.1336G>A.

What clinical features were observed in the 30-year-old patient?

The patient had poor insulin response, markedly elevated glycated hemoglobin, severe wasting, sensorineural deafness, diabetic retinopathy, and peripheral neuropathy.

How did family investigation contribute to understanding the mutations?

The mother carried the CEL mutation and had diabetes, while the sister carried both mutations but did not have diabetes, highlighting variability in disease expression.

Sep 28, 2026

Uploaded by Aditya