Neurology
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

This Article
Right arrow Full Text (PDF)
Right arrow Correspondence:
Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when Correspondence are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Zeviani, M.
Right arrow Articles by Rowland, L. P.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Zeviani, M.
Right arrow Articles by Rowland, L. P.
NEUROLOGY 1988;38:1339
© 1988 American Academy of Neurology

Deletions of mitochondrial DNA in Kearns-Sayre syndrome

M. Zeviani, MD, C. T. Moraes, MSc, S. DiMauro, MD, H. Nakase, MD, E. Bonilla, MD, E. A. Schon, PhD and L. P. Rowland, MD

Department of Neurology, Columbia University College of Physicians and Surgeons, H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, General Clinical Research Center, and the Neurological Institute of the Columbia-Presbyterian Medical Center.

We have identified large-scale deletions in muscle mitochondrial DNA (mtDN A) in seven of seven patients with Kearns-Sayre syndrome (KSS). We found no detectable deletions in the mtDNA of ten non-KSS patients with other mitochondrial myopathies or encephalomyopathies, or three normal controls. The deletions ranged in size from 2.0 to 7.0 kb, and did not localize to any single region of the mitochondrial genome. The proportion of mutated genomes in each KSS patient ranged from 45% to 75% of total mtDNA. There was no correlation between the size or site of the deletion, biochemical abnormality of mitochondrial enzymes, or clinical severity. The data bolster arguments that KSS is a unique disorder and genetic in origin.

Address correspondence and reprint requests to Dr. DiMauro, Columbia University, College of Physicians and Surgeons, Room 4-420. Columbia-Presbyterian Medical Center, New York. NY 10032–3784

Supported by Center Grants from NINCDS (NS11766); RR-00645; and the Muscular Dystrophy Association. H.N. is supported by a grant from the Uehara Scientific Foundation, M.Z. by a grant from the Associazione Italians per le Ricerche Neurologiche, C.T.M. by the Brazilian Research Council (CNPq), and E.A.S. by a grant from the Aaron Diamond Foundation.

Received May 5, 1988. Accepted for publication in final form June 30, 1988




This article has been cited by other articles:


Home page
 Hum Mol GenetHome page
M. Spinazzi, S. Cazzola, M. Bortolozzi, A. Baracca, E. Loro, A. Casarin, G. Solaini, G. Sgarbi, G. Casalena, G. Cenacchi, et al.
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function
Hum. Mol. Genet., November 1, 2008; 17(21): 3291 - 3302.
[Abstract] [Full Text] [PDF]

Home page
 JCBHome page
R. W. Gilkerson, E. A. Schon, E. Hernandez, and M. M. Davidson
Mitochondrial nucleoids maintain genetic autonomy but allow for functional complementation
J. Cell Biol., October 22, 2008; 181(7): 1117 - 1128.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
M. Zeviani
OPA1 mutations and mitochondrial DNA damage: keeping the magic circle in shape
Brain, February 1, 2008; 131(2): 314 - 317.
[Full Text] [PDF]

Home page
 BrainHome page
K. Aure, H. Ogier de Baulny, P. Laforet, C. Jardel, B. Eymard, and A. Lombes
Chronic progressive ophthalmoplegia with large-scale mtDNA rearrangement: can we predict progression?
Brain, June 1, 2007; 130(6): 1516 - 1524.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
A. M. Remes, K. Majamaa-Voltti, M. Karppa, J. S. Moilanen, S. Uimonen, H. Helander, H. Rusanen, P. I. Salmela, M. Sorri, I. E. Hassinen, et al.
Prevalence of large-scale mitochondrial DNA deletions in an adult Finnish population
Neurology, March 22, 2005; 64(6): 976 - 981.
[Abstract] [Full Text] [PDF]

Home page
 Hum Mol GenetHome page
M. D'Aurelio, C. D. Gajewski, M. T. Lin, W. M. Mauck, L. Z. Shao, G. Lenaz, C. T. Moraes, and G. Manfredi
Heterologous mitochondrial DNA recombination in human cells
Hum. Mol. Genet., December 15, 2004; 13(24): 3171 - 3179.
[Abstract] [Full Text] [PDF]

Home page
 Arch NeurolHome page
M. Mancuso, M. Filosto, S. J. Oh, and S. DiMauro
A Novel Polymerase {gamma} Mutation in a Family With Ophthalmoplegia, Neuropathy, and Parkinsonism
Arch Neurol, November 1, 2004; 61(11): 1777 - 1779.
[Abstract] [Full Text] [PDF]

Home page
 BrainHome page
M. Zeviani and S. Di Donato
Mitochondrial disorders
Brain, October 1, 2004; 127(10): 2153 - 2172.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
A Limongelli, J Schaefer, S Jackson, F Invernizzi, Y Kirino, T Suzuki, H Reichmann, and M Zeviani
Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNAIle homoplasmic mutation in the mitochondrial genome
J. Med. Genet., May 1, 2004; 41(5): 342 - 349.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
C. I. Akman, C. M. Sue, S. Shanske, K. Tanji, E. Bonilla, J. Ojaimi, S. Krishna, R. Schubert, and S. DiMauro
Mitochondrial DNA Deletion in a Child Mitochondrial DNA Deletion in a Child With Megaloblastic Anemia and Recurrent Encephalopathy
J Child Neurol, April 1, 2004; 19(4): 258 - 261.
[Abstract] [PDF]

Home page
 J. Med. Genet.Home page
E L Blakely, L He, R W Taylor, P F Chinnery, R N Lightowlers, A M Schaefer, and D M Turnbull
Mitochondrial DNA deletion in "identical" twin brothers
J. Med. Genet., February 1, 2004; 41(2): e19 - 19.
[Full Text] [PDF]

Home page
 J. Med. Genet.Home page
G Puoti, F Carrara, S Sampaolo, M De Caro, C M Vincitorio, F Invernizzi, and M Zeviani
Identical large scale rearrangement of mitochondrial DNA causes Kearns-Sayre syndrome in a mother and her son
J. Med. Genet., November 1, 2003; 40(11): 858 - 863.
[Full Text] [PDF]

Home page
 J. Med. Genet.Home page
L-J C Wong, C-L Perng, C-H Hsu, R-K Bai, S Schelley, G D Vladutiu, H Vogel, and G M Enns
Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load
J. Med. Genet., November 1, 2003; 40(11): e125 - 125.
[Full Text] [PDF]

Home page
 NeurologyHome page
P. F. Chinnery
Mitochondrial disorders come full circle
Neurology, October 14, 2003; 61(7): 878 - 880.
[Full Text] [PDF]

Home page
 NeurologyHome page
A. Agostino, L. Valletta, P.F. Chinnery, G. Ferrari, F. Carrara, R.W. Taylor, A.M. Schaefer, D.M. Turnbull, V. Tiranti, and M. Zeviani
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)
Neurology, April 22, 2003; 60(8): 1354 - 1356.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
L.-J. C. Wong, M.-H. Liang, H. Kwon, J. Park, R.-K. Bai, and D.-J. Tan
Comprehensive Scanning of the Entire Mitochondrial Genome for Mutations
Clin. Chem., November 1, 2002; 48(11): 1901 - 1912.
[Abstract] [Full Text] [PDF]

Home page
 Exp. Biol. Med.Home page
Y.-H. Wei and H.-C. Lee
Oxidative Stress, Mitochondrial DNA Mutation, and Impairment of Antioxidant Enzymes in Aging
Experimental Biology and Medicine, October 1, 2002; 227(9): 671 - 682.
[Abstract] [Full Text] [PDF]

Home page
 MutagenesisHome page
G. Kim, H. Sikder, and K. K. Singh
A colony color method identifies the vulnerability of mitochondria to oxidative damage
Mutagenesis, September 1, 2002; 17(5): 375 - 381.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
J. J. Filiano, M. J. Goldenthal, C. Harker Rhodes, and J. Marin-Garcia
Mitochondrial Dysfunction in Patients With Hypotonia, Epilepsy, Autism, and Developmental Delay: HEADD Syndrome
J Child Neurol, June 1, 2002; 17(6): 435 - 439.
[Abstract] [PDF]

Home page
 Hum Mol GenetHome page
C. Rivolta, D. Sharon, M. M. DeAngelis, and T. P. Dryja
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns
Hum. Mol. Genet., May 15, 2002; 11(10): 1219 - 1227.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
Y. Nishigaki, E. Bonilla, S. Shanske, D. A. Gaskin, S. DiMauro, and M. Hirano
Exercise-induced muscle "burning," fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNAGly
Neurology, April 23, 2002; 58(8): 1282 - 1285.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
C. Bruno, R. Biancheri, B. Garavaglia, C. Biedi, A. Rossi, L. D. Lamba, M. Bado, M. Greco, M. Zeviani, and C. Minetti
A Novel Mutation in the SURF1 Gene in a Child With Leigh Disease, Peripheral Neuropathy, and Cytochrome-c Oxidase Deficiency
J Child Neurol, March 1, 2002; 17(3): 233 - 236.
[Abstract] [PDF]

Home page
 NeurologyHome page
M. Hirano and S. DiMauro
ANT1,Twinkle,POLG, and TP: New genes open our eyes to ophthalmoplegia
Neurology, December 26, 2001; 57(12): 2163 - 2165.
[Full Text] [PDF]

Home page
 NeurologyHome page
L. Napoli, A. Bordoni, M. Zeviani, G. M. Hadjigeorgiou, M. Sciacco, V. Tiranti, A. Terentiou, M. Moggio, A. Papadimitriou, G. Scarlato, et al.
A novel missense adenine nucleotide translocator-1 gene mutation in a Greek adPEO family
Neurology, December 26, 2001; 57(12): 2295 - 2298.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
C. Karadimas, K. Tanji, M. Geremek, P. Chronopoulou, T. Vu, S. Krishna, C. M. Sue, S. Shanske, E. Bonilla, S. DiMauro, et al.
A5814G Mutation in Mitochondrial DNA Can Cause Mitochondrial Myopathy and Cardiomyopathy
J Child Neurol, July 1, 2001; 16(7): 531 - 533.
[Abstract] [PDF]

Home page
 NeurologyHome page
L. Canafoglia, S. Franceschetti, C. Antozzi, F. Carrara, L. Farina, T. Granata, E. Lamantea, M. Savoiardo, G. Uziel, F. Villani, et al.
Epileptic phenotypes associated with mitochondrial disorders
Neurology, May 22, 2001; 56(10): 1340 - 1346.
[Abstract] [Full Text] [PDF]

Home page
 NeurologyHome page
M. Sciacco, G. Fagiolari, C. Lamperti, S. Messina, P. Bazzi, L. Napoli, L. Chiveri, A. Prelle, G.P. Comi, N. Bresolin, et al.
Lack of apoptosis in mitochondrial encephalomyopathies
Neurology, April 24, 2001; 56(8): 1070 - 1074.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
M. Hirano
Transmitochondrial mice: Proof of principle and promises
PNAS, January 16, 2001; 98(2): 401 - 403.
[Full Text] [PDF]

Home page
 Cardiovasc ResHome page
J. Marin-Garcia, M. J Goldenthal, and G. W Moe
Mitochondrial pathology in cardiac failure
Cardiovasc Res, January 1, 2001; 49(1): 17 - 26.
[Full Text] [PDF]

Home page
 J Child NeurolHome page
Y. Ishikawa, Y.-i. Goto, Y. Ishikawa, and R. Minami
Progression in a Case of Kearns-Sayre Syndrome
J Child Neurol, November 1, 2000; 15(11): 750 - 755.
[Abstract] [PDF]

Home page
 ScienceHome page
J. Kaukonen, J. K. Juselius, V. Tiranti, A. Kyttälä, M. Zeviani, G. P. Comi, S. Keränen, L. Peltonen, and A. Suomalainen
Role of Adenine Nucleotide Translocator 1 in mtDNA Maintenance
Science, August 4, 2000; 289(5480): 782 - 785.
[Abstract] [Full Text]

Home page
 J Child NeurolHome page
J. Marin-Garcia, M. J. Goldenthal, and H. B. Sarnat
Kearns-Sayre Syndrome With a Novel Mitochondrial DNA Deletion
J Child Neurol, August 1, 2000; 15(8): 555 - 558.
[Abstract] [PDF]

Home page
 Mol. Biol. CellHome page
Y. Tang, G. Manfredi, M. Hirano, and E. A. Schon
Maintenance of Human Rearranged Mitochondrial DNAs in Long-Term Cultured Transmitochondrial Cell Lines
Mol. Biol. Cell, July 1, 2000; 11(7): 2349 - 2358.
[Abstract] [Full Text]

Home page
 Mol. Biol. CellHome page
Y. Tang, E. A. Schon, E. Wilichowski, M. E. Vazquez-Memije, E. Davidson, and M. P. King
Rearrangements of Human Mitochondrial DNA (mtDNA): New Insights into the Regulation of mtDNA Copy Number and Gene Expression
Mol. Biol. Cell, April 1, 2000; 11(4): 1471 - 1485.
[Abstract] [Full Text]

Home page
 J Child NeurolHome page
A. Nissenkorn, A. Zeharia, D. Lev, N. Watemberg, A. Fattal-Valevski, V. Barash, A. Gutman, S. Harel, and T. Lerman-Sagie
Neurologic Presentations of Mitochondrial Disorders
J Child Neurol, January 1, 2000; 15(1): 44 - 48.
[Abstract] [PDF]

Home page
 BrainHome page
P. F. Chinnery, C. Elliott, G. R. Green, A. Rees, A. Coulthard, D. M. Turnbull, and T. D. Griffiths
The spectrum of hearing loss due to mitochondrial DNA defects
Brain, January 1, 2000; 123(1): 82 - 92.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
A. Shtilbans, M. El-Schahawi, E. Malkin, S. Shanske, O. Musumeci, and S. DiMauro
A Novel Mutation in the Mitochondrial DNA Transfer Ribonucleic AcidAsp Gene in a Child With Myoclonic Epilepsy and Psychomotor Regression
J Child Neurol, September 1, 1999; 14(9): 610 - 613.
[Abstract] [PDF]

Home page
 J. Med. Genet.Home page
P. F Chinnery, N. Howell, R. M Andrews, and D. M Turnbull
Clinical mitochondrial genetics
J. Med. Genet., June 1, 1999; 36(6): 425 - 436.
[Abstract] [Full Text]

Home page
 J. Biol. Chem.Home page
G. Manfredi, N. Gupta, M. E. Vazquez-Memije, J. E. Sadlock, A. Spinazzola, D. C. De Vivo, and E. A. Schon
Oligomycin Induces a Decrease in the Cellular Content of a Pathogenic Mutation in the Human Mitochondrial ATPase 6 Gene
J. Biol. Chem., April 2, 1999; 274(14): 9386 - 9391.
[Abstract] [Full Text] [PDF]

Home page
 MutagenesisHome page
M. Bogliolo, A. Izzotti, S. De Flora, C. Carli, A. Abbondandolo, and P. Degan
Detection of the `4977 bp' mitochondrial DNA deletion in human atherosclerotic lesions
Mutagenesis, January 1, 1999; 14(1): 77 - 82.
[Abstract] [Full Text] [PDF]

Home page
 J Child NeurolHome page
S. Saitoh, M. Y. Momoi, T. Ohki, T. Yamagata, T. Tsuru, M. Mizuguchi, and K. Arima
A Large-Scale Mitochondrial DNA Deletion Causing Progressive Ataxia
J Child Neurol, November 1, 1998; 13(11): 573 - 575.
[Abstract] [PDF]

Home page
 Genome ResHome page
R. Mazzarella and D. Schlessinger
Pathological Consequences of Sequence Duplications in the Human Genome
Genome Res., October 1, 1998; 8(10): 1007 - 1021.
[Abstract] [Full Text]

Home page
 NeuroscientistHome page
S. Dimauro and E. A. Schon
Mitochondrial DNA and Diseases of the Nervous System: The Spectrum
Neuroscientist, January 1, 1998; 4(1): 53 - 63.
[Abstract] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
M. Hirano, A. Shtilbans, R. Mayeux, M. M. Davidson, S. DiMauro, J. A. Knowles, and E. A. Schon
Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes
PNAS, December 23, 1997; 94(26): 14894 - 14899.
[Abstract] [Full Text] [PDF]

Home page
 Cardiovasc ResHome page
C. Antozzi and M. Zeviani
Cardiomyopathies in disorders of oxidative metabolism
Cardiovasc Res, August 1, 1997; 35(2): 184 - 199.
[Abstract] [Full Text] [PDF]

Home page
 Arch. Dis. Child.Home page
G Touati, O Rigal, A Lombès, P Frachon, M Giraud, and H O. de Baulny
In vivo functional investigations of lactic acid in patients with respiratory chain disorders
Arch. Dis. Child., January 1, 1997; 76(1): 16 - 21.
[Abstract] [Full Text]

Home page
 CirculationHome page
R. Anan, M. Nakagawa, M. Miyata, I. Higuchi, S. Nakao, M. Suehara, M. Osame, and H. Tanaka
Cardiac Involvement in Mitochondrial Diseases : A Study on 17 Patients With Documented Mitochondrial DNA Defects
Circulation, February 15, 1995; 91(4): 955 - 961.
[Abstract] [Full Text]

Home page
 J Child NeurolHome page
M. Hirano and S. G. Pavlakis
Topical Review: Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Strokelike Episodes (MELAS): Current Concepts
J Child Neurol, January 1, 1994; 9(1): 4 - 13.
[Abstract] [PDF]

Home page
 ScienceHome page
D. Wallace
Mitochondrial genetics: a paradigm for aging and degenerative diseases?
Science, May 1, 1992; 256(5057): 628 - 632.
[Abstract] [PDF]

Home page
 ScienceHome page
M. King and G Attardi
Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation
Science, October 27, 1989; 246(4929): 500 - 503.
[Abstract] [PDF]

Home page
 ScienceHome page
E. Schon, R Rizzuto, C. Moraes, H Nakase, M Zeviani, and S DiMauro
A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA
Science, April 21, 1989; 244(4902): 346 - 349.
[Abstract] [PDF]

Home page
 ScienceHome page
D. Wallace, G Singh, M. Lott, J. Hodge, T. Schurr, A. Lezza, L. Elsas 2nd, and E. Nikoskelainen
Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
Science, December 9, 1988; 242(4884): 1427 - 1430.
[Abstract] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 1988 by AAN Enterprises, Inc.