HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS		QUICK SEARCH:   [advanced] Author: Keyword(s): Year:  Vol:  Page:

This Article Full Text (PDF) Correspondence: Submit a response Alert me when this article is cited Alert me when Correspondence are posted Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Citing Articles Citing Articles via HighWire Citing Articles via Google Scholar Google Scholar Articles by Remes, A. M. Articles by Hassinen, I. E. Search for Related Content PubMed PubMed Citation Articles by Remes, A. M. Articles by Hassinen, I. E.

Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relatives of MELAS patients in a family with the tRNA^Leu(UUR) mutation

Departments of Medical Biochemistry (Drs. Remes and Hassinen), Neurology (Dr. Majamaa), and Pathology (Dr. Herva), University of Oulu, Oulu, Finland.

We describe a family with three cases of "clinically incomplete mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome" in which heteroplasmic tRNA^Leu(UUR) mutation at nucleotide 3243 of the mitochondrial DNA was present in three generations. The amount of mutant genome varied among tissues: it was 60% in the kidney, 72% in the cardiac muscle, and 91% in the liver of the female proband's affected brother and 63% in the kidney, 71% in the cardiac muscle, and 71% in the liver of the female proband's perinatally deceased son. The tRNA^Leu(UUR) mutation was also carried by the siblings of the proband's affected mother. None of them had any clinical signs of MELAS syndrome. This syndrome has the new feature of being associated with adult-onset diabetes mellitus, neurosensory hearing loss, and short stature

Address correspondence and reprint requests to Dr. Ilmo E. Hassinen, Department of Medical Biochemistry, University of Oulu, Kajaanintie 52 A, SF-90220 Oulu, Finland.

Supported by the Sigrid Juselius Foundation, the Medical Research Council of the Academy of Finland, and the Neurology Foundation, Finland.

Received July 7,1992. Accepted for publication in final form September 2, 1992.

This article has been cited by other articles:

				A R Sinnathuray, V Raut, J G Toner, A Magee, and J Graham Cochlear implantation in a profoundly deaf patient with MELAS syndrome J. Neurol. Neurosurg. Psychiatry, July 1, 2002; 73(1): 97 - 97. [Full Text] [PDF]

				M. Brandle, R. Lehmann, F. E. Maly, C. Schmid, and G. A. Spinas Diminished Insulin Secretory Response to Glucose but Normal Insulin and Glucagon Secretory Responses to Arginine in a Family With Maternally Inherited Diabetes and Deafness Caused by Mitochondrial tRNALEU(UUR) Gene Mutation Diabetes Care, July 1, 2001; 24(7): 1253 - 1258. [Abstract] [Full Text] [PDF]

				P. Balestri and S. Grosso Endocrine Disorders in Two Sisters Affected by MELAS Syndrome J Child Neurol, November 1, 2000; 15(11): 755 - 758. [Abstract] [PDF]

				R. Rossignol, M. Malgat, J.-P. Mazat, and T. Letellier Threshold Effect and Tissue Specificity. IMPLICATION FOR MITOCHONDRIAL CYTOPATHIES J. Biol. Chem., November 19, 1999; 274(47): 33426 - 33432. [Abstract] [Full Text] [PDF]

				M. L. Smith, X.-Y. Hua, D. L. Marsden, D. Liu, N. G. Kennaway, K.-Y. Ngo, and R. H. Haas Diabetes and Mitochondrial Encephalomyopathy with Lactic Acidosis and Stroke-Like Episodes (MELAS): Radiolabeled Polymerase Chain Reaction Is Necessary for Accurate Detection of Low Percentages of Mutation J. Clin. Endocrinol. Metab., September 1, 1997; 82(9): 2826 - 2831. [Abstract] [Full Text] [PDF]

				H. c. Lee, Y. d. Song, H.-R. Li, J. o. Park, H. c. Suh, E. Lee, S. Lim, K. Kim, and K. Huh Mitochondrial Gene Transfer Ribonucleic Acid (tRNA)Leu(UUR) 3243 and tRNALys 8344 Mutations and Diabetes Mellitus in Korea J. Clin. Endocrinol. Metab., February 1, 1997; 82(2): 372 - 374. [Abstract] [Full Text] [PDF]