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

This Article Figures Only Full Text 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 Crimi, M. Articles by Comi, G. P. Search for Related Content PubMed PubMed Citation Articles by Crimi, M. Articles by Comi, G. P. Related Collections Childhood stroke Muscle disease Optic nerve All Cerebrovascular disease/Stroke Mitochondrial disorders

A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome

Marco Crimi, PhD, Sara Galbiati, MD, Isabella Moroni, MD, Andreina Bordoni, BS, Maria Paola Perini, MD, Eleonora Lamantea, PhD, Monica Sciacco, MD, Massimo Zeviani, MD, Ida Biunno, PhD, Maurizio Moggio, MD, Guglielmo Scarlato, MD and Giacomo Pietro Comi, MD

Deceased.
From the Dino Ferrari Center (Drs. Crimi, Galbiati, Perini, Sciacco, Moggio, Scarlato, and Comi, A. Bordoni), Department of Neurological Sciences, University of Milan, I.R.C.C.S. Ospedale Maggiore Policlinico; Divisions of Neuropediatrics (Dr. Moroni) and Biochemistry and Genetics (Drs. Lamantea and Zeviani), National Neurological Institute-I.R.C.C.S., C. Besta; and Istituto Tecnologie Biomediche Avanzate (ITBA)-CNR and Centro Interdisciplinare Studi bio-molecolari e applicazioni Industriali (CISI) (Dr. Biunno), Milan, Italy.

Address correspondence and reprint requests to Dr. Marco Crimi, Dipartimento di Scienze Neurologiche, Ospedale Maggiore Policlinico (Pad.ne Ponti), Via F. Sforza 35, 20122 Milan, Italy; e-mail: neurogene{at}policlinico.mi.it

A 13084 A->T missense mutation in the mitochondrial ND5 gene was identified in a 16-year-old boy affected with a progressive neurodegenerative disorder combining features of Leigh and MELAS (mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes) syndromes. Muscle biopsy analysis revealed partial complex I deficiency. The mutation presented a variable degree of heteroplasmy in the patient’s tissues. This finding underlines the contribution of mtDNA-encoded complex I subunits in the etiology of complex I deficiency associated with encephalopathy.

This article has been cited by other articles:

				C. L. Morgia, A. Achilli, L. Iommarini, P. Barboni, M. Pala, A. Olivieri, C. Zanna, S. Vidoni, C. Tonon, R. Lodi, et al. Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus Neurology, March 4, 2008; 70(10): 762 - 770. [Abstract] [Full Text] [PDF]

				S. Shanske, J. Coku, J. Lu, J. Ganesh, S. Krishna, K. Tanji, E. Bonilla, A. B. Naini, M. Hirano, and S. DiMauro The G13513A Mutation in the ND5 Gene of Mitochondrial DNA as a Common Cause of MELAS or Leigh Syndrome: Evidence From 12 Cases Arch Neurol, March 1, 2008; 65(3): 368 - 372. [Abstract] [Full Text] [PDF]

				M L Valentino, P Barboni, C Rengo, A Achilli, A Torroni, R Lodi, C Tonon, B Barbiroli, F Fortuna, P Montagna, et al. The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype. J. Med. Genet., July 1, 2006; 43(7): e38 - e38. [Abstract] [Full Text] [PDF]

				A. B. Naini, J. Lu, P. Kaufmann, R. A. Bernstein, M. Mancuso, E. Bonilla, M. Hirano, and S. DiMauro Novel Mitochondrial DNA ND5 Mutation in a Patient With Clinical Features of MELAS and MERRF Arch Neurol, March 1, 2005; 62(3): 473 - 476. [Abstract] [Full Text] [PDF]

				M.-C. Kao, S. Di Bernardo, M. Perego, E. Nakamaru-Ogiso, A. Matsuno-Yagi, and T. Yagi Functional Roles of Four Conserved Charged Residues in the Membrane Domain Subunit NuoA of the Proton-translocating NADH-Quinone Oxidoreductase from Escherichia coli J. Biol. Chem., July 30, 2004; 279(31): 32360 - 32366. [Abstract] [Full Text] [PDF]