P.-J. Guillausseau , M. Laloi-Michelin , M. Virally , P. Massin , C. Bellanne-Chantelot , J. Timsit
{"title":"Diabètes mitochondriaux","authors":"P.-J. Guillausseau , M. Laloi-Michelin , M. Virally , P. Massin , C. Bellanne-Chantelot , J. Timsit","doi":"10.1016/j.emcend.2005.06.002","DOIUrl":null,"url":null,"abstract":"<div><p>Among all cases of mitochondrial diabetes due to mutations or deletion of mitochondrial DNA, Maternally Inherited Diabetes and Deafness (MIDD), which results from a point mutation 3243 A<!--> <!-->>G, is the most frequently observed form. Described on 1992, MIDD is characterized by its matrilineal inheritance, and its particular phenotype: early onset, low BMI, short stature (in male patients), and associated extrapancreatic manifestations (neurosensorial deafness, pattern dystrophy, neurological and muscular manifestations, cardiomyopathy). Clinically, diabetes presents as either type 1 or type 2 diabetes (80% of cases). It is related to a primary defect in insulin secretion, due to mitochondrial respiratory chain dysfunction. Diabetic retinopathy is less frequent than in common forms of diabetes, due to a less severe hyperglycaemia, and to a lower prevalence of hypertension. A specific mitochondrial nephropathy with poor prognosis is observed in MIDD patients. Coenzyme Q10 should be proposed as curative and preventive treatment. Molecular diagnosis is usually performed from circulating leucocytes. Around 20 different mutations or deletions of mitochondrial DNA associated with diabetes have been described.</p></div>","PeriodicalId":100422,"journal":{"name":"EMC - Endocrinologie","volume":"2 3","pages":"Pages 171-178"},"PeriodicalIF":0.0000,"publicationDate":"2005-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1016/j.emcend.2005.06.002","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"EMC - Endocrinologie","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1762565305000092","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 0
Abstract
Among all cases of mitochondrial diabetes due to mutations or deletion of mitochondrial DNA, Maternally Inherited Diabetes and Deafness (MIDD), which results from a point mutation 3243 A >G, is the most frequently observed form. Described on 1992, MIDD is characterized by its matrilineal inheritance, and its particular phenotype: early onset, low BMI, short stature (in male patients), and associated extrapancreatic manifestations (neurosensorial deafness, pattern dystrophy, neurological and muscular manifestations, cardiomyopathy). Clinically, diabetes presents as either type 1 or type 2 diabetes (80% of cases). It is related to a primary defect in insulin secretion, due to mitochondrial respiratory chain dysfunction. Diabetic retinopathy is less frequent than in common forms of diabetes, due to a less severe hyperglycaemia, and to a lower prevalence of hypertension. A specific mitochondrial nephropathy with poor prognosis is observed in MIDD patients. Coenzyme Q10 should be proposed as curative and preventive treatment. Molecular diagnosis is usually performed from circulating leucocytes. Around 20 different mutations or deletions of mitochondrial DNA associated with diabetes have been described.
在所有由线粒体DNA突变或缺失引起的线粒体糖尿病病例中,由点突变3243 a >G引起的母性遗传性糖尿病和耳聋(MIDD)是最常见的形式。MIDD于1992年被描述,其特点是母系遗传,其特殊的表型:发病早,BMI低,身材矮小(男性患者),以及相关的胰腺外表现(神经感觉性耳聋,模式营养不良,神经和肌肉表现,心肌病)。临床上,糖尿病表现为1型或2型糖尿病(80%的病例)。它与线粒体呼吸链功能障碍引起的胰岛素分泌的原发性缺陷有关。由于高血糖不那么严重,高血压患病率也较低,糖尿病视网膜病变比普通形式的糖尿病发病率低。在MIDD患者中观察到一种特殊的线粒体肾病,预后不良。辅酶Q10应作为治疗和预防治疗。分子诊断通常通过循环白细胞进行。大约有20种不同的线粒体DNA突变或缺失与糖尿病有关。