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Mitochondrial Encephalomyopathy and Hypoparathyrodism Associated with a Duplication and a Deletion of Mitochondrial Deoxyribonucleic Acid¹

Departments of Neurology (C.H.T., C.T.M.) and Cell Biology and Anatomy (C.T.M.), University of Miami School of Medicine, Miami, Florida 33136; and Disciplina de Neurologia Clínica, Universidade Federal de São Paulo (C.H.T., B.H.K., A.A.G.), and C. S. Santa Marcelina (M.S.R., V.L.S.T.), Sao Paulo, Brazil

Address all correspondence and requests for reprints to: Carlos T. Moraes, Ph.D., Department of Neurology, University of Miami, 1501 NW 9th Avenue, Miami, Florida 33136. E-mail: cmoraes{at}mednet.med.miami.edu

Diabetes mellitus is the most frequent endocrinopathy associated with mitochondrial disorders, particularly in patients with duplications of mitochondrial DNA (mtDNA). Although hypoparathyroidism has also been described in mitochondrial diseases, there have been few molecular studies in these cases, most of which identified the presence of single mtDNA deletions in the patients’ tissues. We studied muscle DNA of a 12-yr-old patient with incomplete Kearns-Sayre syndrome and hypoparathyroidism. Southern analysis showed that muscle DNA contained three populations of mtDNA: wild type (26%), deleted (65%), and duplicated (9%). To determine the sequence of the breakpoint region from deleted and duplicated mtDNA independently, we isolated the deleted and duplicated mtDNA by gel fractionation of a PstI-digested total DNA. The breakpoint was located at mtDNA positions 5788 and 15448 for both duplicated and deleted molecules. Our study reinforces the concept that endocrinopathies other than diabetes can be associated with a duplication of mtDNA and gives additional support to the hypothesis that the duplication and deletion of mtDNA are generated from the same recombination event.

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