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Maternally inherited diabetes and deafness (MIDD)—a series of case reports

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Abstract

Introduction

Maternally inherited diabetes and deafness (MIDD) is a rare form of diabetes, caused by a mutation in the mitochondrial DNA (mtDNA) which impairs mitochondrial function by decreasing the efficiency of the Leucine transfer ribonucleic acid (tRNA) in adding amino acids to developing proteins. MIDD has a prevalence of 0.5 to 3% among diabetic population but almost always misdiagnosed and managed as either type 1 or type 2 diabetes mellitus, which adversely impacts their long-term outcome. So, it is important to differentiate these cases early enough and to institute correct treatment.

Case Reports

We report on 3 cases of MIDD which was confirmed by genetic testing and five of their first-degree relatives with similar clinical presentation.

Diagnostic Intervention

Genetic Testing was done on all 3 cases and heteroplasmic missense mutation in the MT-TL1 gene (chrm: 3243A>G mitochondrial DNA) was detected in all three patients but genetic confirmation was not possible in their relatives for want of patient consent for genetic study.

Conclusion

To our knowledge, this is the largest series of MIDD reported from India.

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Acknowledgments

The authors would like to thank the Madras Diabetes Research Foundation (MDRF) in Chennai for their help with the genetic studies. The authors thank Dr. Anusree, Pharm. D, Dr. Jasmina E. K, Pharm. D, and Dr. Renu VP, MPH, for their assistance with manuscript preparation and typing.

Funding

Genetic study was funded by ICMR through Dr. V Radha’s project “Investigations of the Association of Mutations in MODY and NDM by Translational Genomic Research.”

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Authors and Affiliations

  1. Department of Diabetology, Dr. Suresh’s DiabcareIndia, Kavu Nagar, Thondayad Junction, Mavoor Road, Kozhikode, Kerala, 673017, India

    Sureshkumar Pichakacheri, Sidharth S Kumar & Aishwarya Suresh Babu

  2. Department of Molecular Genetics, Madras Diabetes Research Foundation, Siruseri, Chennai, 603103, India

    Venkatesan Radha

  3. Department of Diabetology, Dr. Mohan’s Diabetes Specialties Centre & Madras Diabetes Research Foundation, Gopalapuram, Chennai, 600086, India

    Viswanathan Mohan

Authors
  1. Sureshkumar Pichakacheri
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  2. Venkatesan Radha
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  3. Viswanathan Mohan
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  4. Sidharth S Kumar
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  5. Aishwarya Suresh Babu
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Corresponding author

Correspondence to Sureshkumar Pichakacheri.

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Ethics approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research Committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards. The study was approved by the Institutional Ethics Committee of Dr Suresh’s Diabcare India.

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Informed consent was obtained from all individual participants included in the study.

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Pichakacheri, S., Radha, V., Mohan, V. et al. Maternally inherited diabetes and deafness (MIDD)—a series of case reports. Int J Diabetes Dev Ctries 43, 583–586 (2023). https://doi.org/10.1007/s13410-022-01156-2

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  • DOI: https://doi.org/10.1007/s13410-022-01156-2

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