@article{7a1f3951b128431eb3122af566bb5a96,
title = "Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitus",
abstract = "Since recent studies demonstrated the occurrence of the mitochondrial DNA (mtDNA) mutation A3243G in patients with adult-onset diabetes, an investigation was undertaken to determine the frequency of this mutation in a pediatric population with insulin-dependent diabetes mellitus (IDDM). DNA was extracted from peripheral blood of 270 pediatric patients with IDDM. The presence of the mtDNA A3243G mutation was screened for by minisequencing and mutation-specific ApaI endonuclease restriction after polymerase chain reaction (PCR) amplification of mtDNA. The A3243G mtDNA mutation was not found in any IDDM patients examined. This mutation is uncommon in children with IDDM from various ethnic and racial groups. Therefore, the contribution of the mutation to the pathogenesis of IDDM, if any, is minimal.",
author = "Abad, {Maria Mylene} and Cotter, {Philip D.} and Fodor, {Flora H.} and Signe Larson and Fredda Ginsberg-Fellner and Desnick, {Robert J.} and Abdenur, {Jose E.}",
note = "Funding Information: From the Departments of Pediatrics and Human Genetics, Mount Sinai School of Medicine, New York, NY. Submitted August 15, 1996; accepted October 28, 1996. Supported in part by a grant from Eli Lilly and Company (M.M.A. ), grants from the National Institutes of Health to Mount Sinai Child Health Research Center (5 P30 HD28822) and Mount Sinai General Clinical Research Center (2 MO1 RRO0071), a Fulbright scholarship (F.H.F.), and a Young Investigator Award from the Mount Sinai Child Health Research Center (J.E.A.). Address reprint requests to Robert J. Desnick, PhD, MD, Professor and Chairman, Department of Human Genetics, Box 1498, Mount Sinai School of Medicine, New York, NY 10029. Copyright {\textcopyright} 1997 by W.B. Saunders Company 0026-0495/97/4604-0020503.00/0",
year = "1997",
doi = "10.1016/S0026-0495(97)90064-0",
language = "English",
volume = "46",
pages = "445--449",
journal = "Metabolism: Clinical and Experimental",
issn = "0026-0495",
publisher = "W.B. Saunders",
number = "4",
}