The Role of Heteroplasmy in the Diagnosis and Management of Maternally Inherited Diabetes and Deafness |
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| Institution: | 1. From the Physician Assistant Studies Program, Department of Clinical and Diagnostic Sciences, School of Health Professions, University of Alabama at Birmingham;2. Biomedical Sciences Program, Department of Clinical and Diagnostic Sciences, School of Health Professions, University of Alabama at Birmingham.;1. From the Department of Medical, Surgical, and Neurological Sciences, Endocrinology Unit, University of Siena, Siena, Italy.;2. Department of Mental Health, Psychiatry Unit, University of Siena, Siena, Italy.;3. Department of Medical, Surgical, and Neurological Sciences, Diabetology Unit, University of Siena, Siena, Italy.;4. Bariatric Surgery Unit, Department of Surgical Sciences, Siena, Italy.;1. Krankenanstalt Rudolfstiftung, Vienna, Austria;2. Genomics Platform, Pasteur Institute of Tunis, Tunisia;1. Genética Molecular, Hospital Universitario Central de Asturias (HUCA), Oviedo, Spain;2. Nefrología, Hospital Universitario Central de Asturias (HUCA), Oviedo, Spain;3. Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, Zaragoza, Spain;4. Centro de Investigaciones Biomédicas En Red de Enfermedades Raras (CIBERER), Universidad de Zaragoza, Zaragoza, Spain;5. Fundación Renal I. Alvarez de Toledo, Madrid, Spain;6. Universidad de Oviedo, Oviedo, Spain;1. Department of Neurology, Tongren Hospital, Shanghai Jiaotong University School of Medicine, Shanghai 200336, China;2. Department of Neurology, Perking University First Hospital, Beijing 100034, China;3. Department of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou 310009, China;1. Krankenanstalt Rudolfstiftung, Vienna, Austria;2. University of Tunis El Manar and Genomics Platform, Pasteur Institute of Tunis, Tunisia |
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| Abstract: | Objective: Maternally inherited diabetes and deafness (MIDD) is a rare diabetic syndrome mainly caused by a point mutation in the mitochondrial DNA (mtDNA), mt3243 adenine to guanine (A>G). The objective of this paper is to review the genetic inheritance, clinical manifestations, and treatment of patients with MIDD.Methods: The current review used a literature search of scientific papers on this rare syndrome.Results: mtDNA is primarily inherited through the maternal oocyte; therefore, the genetic abnormalities in MIDD are associated with maternal inheritance. Mitochondria contain circular mtDNA, which codes for various mitochondrial genes. The mtDNA can be heteroplasmic, containing more than one type of mtDNA sequence; if one of the mtDNAs contains the mt3243 A>G mutation, a patient may develop MIDD. Patients can inherit different amounts of mutated mtDNA and normal mtDNA that affect the severity of the clinical manifestations of MIDD. The most common clinical manifestations include diabetes mellitus, deafness, ophthalmic disease, cardiac disease, renal disease, gastrointestinal disease, short stature, and myopathies. In order to effectively treat patients with MIDD, it is important to recognize the underlying pathophysiology of this specific form of diabetes and the pathophysiology associated with the organ-specific complications present in this disease.Conclusion: The heteroplasmic inheritance of mutated mtDNA plays an important role in the clinical manifestations of various mitochondrial diseases, specifically MIDD. This review will alert endocrinologists of the signs and symptoms of MIDD and important clinical considerations when managing this disease.Abbreviations: ATP = adenosine triphosphate; CoQ10 = coenzyme Q10; MELAS = mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke; MIDD = maternally inherited diabetes and deafness; mtDNA = mitochondrial DNA; tRNA = transfer ribonucleic acid; ROS = reactive oxygen species; T2DM = type 2 diabetes mellitus |
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