 |
 |
|
Home |
Current Issue |
Past Issues |
In the Clinic |
ACP Journal Club |
CME |
Collections |
Audio/Video |
Mobile |
Subscribe |
Tools |
Help |
ACP Online
|
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
1 May 2001 | Volume 134 Issue 9 Part 1 | Pages 721-728
Background: Maternally inherited diabetes and deafness (MIDD), which is seen in 0.5% to 2.8% of patients with type 2 diabetes mellitus, is related to a point mutation at position 3243 of mitochondrial (mt) DNA. Its clinical description is incomplete.
Objective: To study the clinical presentation and complications of diabetes in patients with MIDD and to identify clinical characteristics that may help select diabetic patients for mtDNA mutation screening.
Design: Multicenter prospective descriptive study.
Setting: 16 French departments of internal medicine, diabetes and metabolic diseases, or both.
Patients: 54 patients with type 2 diabetes mellitus and the mtDNA 3243 mutation.
Measurements: Characteristics of diabetes, metabolic control (glycosylated hemoglobin level), complications of diabetes, and involvement of other organs.
Results: On average, patients with MIDD were young at diabetes onset and presented with a normal or low body mass index. None were obese. Seventy-three percent of probands had a maternal family history of diabetes. Diabetes was non–insulin-dependent at onset in 87% of patients; however, 46% of patients had non–insulin-dependent disease at onset but progressed to insulin therapy after a mean duration of approximately 10 years. Neurosensory hearing loss was present in almost all patients. Eighty-six percent of patients who received an ophthalmologic examination had macular pattern dystrophy (a specific retinal lesion). Forty-three percent of patients had myopathy, 15% had cardiomyopathy, and 18% (9 of 51) had neuropsychiatric symptoms. Although the prevalence of diabetic retinopathy was 8% among patients who received an ophthalmologic examination, lower than expected after a mean 12-year duration of diabetes, prevalence of kidney disease was 28%. This suggests that a specific renal involvement was the result of mitochondrial disease.
Conclusions: Maternally inherited diabetes and deafness has a specific clinical profile that may help identify diabetic patients for mtDNA testing.
Author and Article Information
From Lariboisière Hospital, Necker Hospital, and Pitié-Salpêtrière Hospital, Paris; University Hospital, Pessac; Robert Debré Hospital, Reims; University Hospital, Strasbourg; University Hospital, Angers; Victor-Dupouy Hospital, Argenteuil; Gilles de Corbeil Hospital, Corbeil; University Hospital, Rennes; Edouard-Herriot Hospital, Lyon; Jeanne d'Arc Hospital, Dommartin-les-Toul; Hospital, Compiègne; Hôtel Dieu Hospital, Nantes; Hospital, Cahors; UMR Centre National pour la Recherche Scientifique 6549, Nice; and Sainte Marguerite Hospital, Marseille, France.
Acknowledgments: The authors thank Mrs. Edith Audran for determination of mtDNA mutations; Mrs. Estelle André for secretarial assistance; and Ms. Catriona Donagh and David F. Mason, MD, for editorial assistance.
Requests for Single Reprints: Pierre-Jean Guillausseau, MD, Medecine B, Lariboisière Hospital, 2 rue Ambroise Paré, F75010 Paris, France; e-mail, pierre-jean.guillausseau{at}lrb.ap-hop-paris.fr.
Current Author Addresses: Drs. Guillausseau, Virally, Porokhov, and Samuel-Lajeunesse: Department of Medicine B, Lariboisière Hospital, 2 rue Ambroise Paré, F75010 Paris, University Paris 7-Denis Diderot, France.
Drs. Massin and Paques: Department of Ophthalmology, Lariboisière Hospital, 2 rue Ambroise Paré, F75010 Paris, France.
Drs. Dubois-LaForgue and Timsit: Diabetes Unit, Department of Clinical Immunology, Necker Hospital, 161 rue de Sèvres, F75015 Paris, France.
Dr. Gin: University Hospital, avenue Magellan, F33064 Pessac, France.
Dr. Bertin: Robert-Debré Hospital, rue Cognacq-Jay, F51100 Reims, France.
Dr. Blickle: University Hospital, 1 place de l'Hopital, F67091 Strasbourg, France.
Dr. Bouhanick: University Hospital, rue Larrey, F49033 Angers, France.
Drs. Cahen and Chedin: Victor-Dupouy Hospital, 69 rue du Lt-Colonel Prud'hon, F95107 Argenteuil, France.
Dr. Caillat-Zucman: Laboratory of Immunology, Necker Hospital, 161 rue de Sèvres, F75015 Paris, France.
Dr. Charpentier: Gilles de Corbeil Hospital, 59 boulevard Henri-Dunant, F91106 Corbeil, France.
Dr. Derrien: University Hospital, 16 boulevard de Bulgarie, F35056 Rennes, France.
Dr. Ducluzeau: Edouard-Herriot Hospital, place d'Arsonval, F69437 Lyon, France.
Dr. Grimaldi: Pitié-Salpêtrière Hospital, 83 boulevard de l'Hôpital, F75013 Paris, France.
Dr. Guerci: Jeanne d'Arc Hospital, BP 303, F54201 Dommartin-les-Toul, France.
Dr. Kaloustian: Hospital, 8 avenue Henri-Adnot, F60324 Compiègne, France.
Dr. Murat: Hôtel Dieu Hospital, 1 place Alexis-Ricordeau, F44035 Nantes, France.
Dr. Olivier: Hospital, 335 rue du Président Wilson, F46005 Cahors, France.
Dr. Paquis-Flucklinger: UMR Centre National pour la Recherche Scientifique 6549, Faculty of Medicine, avenue de Valombrose, F06107 Nice, France.
Dr. Vialettes: Sainte Marguerite Hospital, 270 boulevard Sainte-Marguerite, F13274 Marseille, France.
Author Contributions: Conception and design: P.J. Guillausseau, P. Massin, H. Gin, B. Vialettes.
Analysis and interpretation of the data: P.J. Guillausseau, P. Massin, D. Dubois-LaForgue, J. Timsit, M. Virally.
Drafting of the article: P.J. Guillausseau, P. Massin, D. Dubois-LaForgue, J. Timsit.
Critical revision of the article for important intellectual content: P. Massin, J. Timsit, M. Virally, B. Vialettes.
Final approval of the article: P. Massin, D. Dubois-LaForgue, J. Timsit, M. Virally, H. Gin, E. Bertin, J.F. Blickle, B. Bouhanick, J. Cahen, S. Caillat-Zucman, G. Charpentier, P. Chedin, C. Derrien, P.H. Ducluzeau, A. Grimaldi, B. Guerci, E. Kaloustian, A. Murat, F. Olivier, M. Paques, V. Paquis-Flucklinger, B. Porokhov, J. Samuel-Lajeunesse, B. Vialettes.
Provision of study materials or patients: P.J. Guillausseau, D. Dubois-LaForgue, J. Timsit, H. Gin, E. Bertin, J.F. Blickle, B. Bouhanick, J. Cahen, S. Caillat-Zucman, G. Charpentier, P. Chedin, C. Derrien, P.H. Ducluzeau, A. Grimaldi, B. Guerci, E. Kaloustian, A. Murat, F. Olivier, M. Paques, V. Paquis-Flucklinger, B. Porokhov, J. Samuel-Lajeunesse, B. Vialettes.
Obtaining of funding: D. Dubois-LaForgue
Collection and assembly of data: P.J. Guillausseau. ARTICLE
Maternally Inherited Diabetes and Deafness: A Multicenter Study
Related articles in Annals:
This article has been cited by other articles:
|
|
 |
|
  A.M. Hall, R.J. Unwin, M.G. Hanna, and M.R. Duchen Renal function and mitochondrial cytopathy (MC): more questions than answers? QJM, May 16, 2008; (2008) hcn060v1. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P P Rath, S Jenkins, M Michaelides, A Smith, M G Sweeney, M B Davis, F W Fitzke, and A C Bird Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence Br. J. Ophthalmol., May 1, 2008; 92(5): 623 - 629. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. Michaelides, S. A. Jenkins, D.-E. Bamiou, M. G. Sweeney, M. B. Davis, L. Luxon, A. C. Bird, and P. P. Rath Macular Dystrophy Associated With the A3243G Mitochondrial DNA Mutation: Distinct Retinal and Associated Features, Disease Variability, and Characterization of Asymptomatic Family Members Arch Ophthalmol, March 1, 2008; 126(3): 320 - 328. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. P. Sahu, A. Aggarwal, G. Zaidi, A. Shah, K. Modi, S. Kongara, S. Aggarwal, S. Talwar, S. Chu, V. Bhatia, et al. Etiology of Early-Onset Type 2 Diabetes in Indians: Islet Autoimmunity and Mutations in Hepatocyte Nuclear Factor 1{alpha} and Mitochondrial Gene J. Clin. Endocrinol. Metab., July 1, 2007; 92(7): 2462 - 2467. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. E. Donovan and N. E. Severin Maternally Inherited Diabetes and Deafness in a North American Kindred: Tips for Making the Diagnosis and Review of Unique Management Issues J. Clin. Endocrinol. Metab., December 1, 2006; 91(12): 4737 - 4742. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H.-B. Park, L. Jacobsson, P. Wahlberg, P. B. Siegel, and L. Andersson QTL analysis of body composition and metabolic traits in an intercross between chicken lines divergently selected for growth Physiol Genomics, April 13, 2006; 25(2): 216 - 223. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. Bellmann, M. M. Neveu, H. P. N. Scholl, C. R. Hogg, P. P. Rath, S. Jenkins, A. C. Bird, and G. E. Holder Localized Retinal Electrophysiological and Fundus Autofluorescence Imaging Abnormalities in Maternal Inherited Diabetes and Deafness Invest. Ophthalmol. Vis. Sci., July 1, 2004; 45(7): 2355 - 2360. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. Cervin, B. Liljestrom, T. Tuomi, S. Heikkinen, J. S. Tapanainen, L. Groop, and C. M. Cilio Cosegregation of MIDD and MODY in a Pedigree: Functional and Clinical Consequences Diabetes, July 1, 2004; 53(7): 1894 - 1899. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
J. A. Maassen, Leen. M. 't Hart, E. van Essen, R. J. Heine, G. Nijpels, R. S. Jahangir Tafrechi, A. K. Raap, G. M.C. Janssen, and H. H.P.J. Lemkes Mitochondrial Diabetes: Molecular Mechanisms and Clinical Presentation Diabetes, February 1, 2004; 53(90001): S103 - 109. [Abstract] [Full Text]
|
|
|
|
 |
|
 B. Guery, G. Choukroun, L.-H. Noel, P. Clavel, A. Rotig, S. Lebon, P. Rustin, C. Bellane-Chantelot, B. Mougenot, J.-P. Grunfeld, et al. The Spectrum of Systemic Involvement in Adults Presenting with Renal Lesion and Mitochondrial tRNA(Leu) Gene Mutation J. Am. Soc. Nephrol., August 1, 2003; 14(8): 2099 - 2108. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 N. Fischel-Ghodsian Mitochondrial DNA Mutations and Diabetes: Another Step toward Individualized Medicine Ann Intern Med, May 1, 2001; 134(9_Part_1): 777 - 779. [Full Text] [PDF]
|
|
Article
