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Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation
Abstract
OBJECTIVE: To investigate a family with maternally inherited, adult-onset multisystem degeneration including prominent parkinsonism to determine whether clinical features can result from a mitochondrial DNA (mtDNA) mutation. The parkinsonism was levodopa responsive and was associated with the loss of pigmented neurons in the substantia nigra in at least one patient. BACKGROUND: Mitochondrial dysfunction is hypothesized to play a role in late-onset neurodegenerative diseases including PD and AD. Mitochondrial genetic mutations are hypothesized to account for these defects, but attempts to identify specific mtDNA mutations have been inconclusive. METHODS: Clinical examinations, DNA sequencing, and restriction digestion and biochemical analyses were performed. RESULTS: Maternal relatives harbor a G-to-A missense mutation, heteroplasmic in some patients, at nucleotide position 11778 of the mitochondrial ND4 gene of complex I that converts a highly conserved arginine to a histidine. Sequencing of the entire mitochondrial genome in an affected family member reveals no other mutations likely to be pathogenic. This mutation has been identified previously only in families with Leber's hereditary optic neuropathy-a disorder also linked to complex I dysfunction but usually limited clinically to optic atrophy. CONCLUSIONS: These data reveal previously unsuspected clinical heterogeneity of the G11778A mutation, and suggest that an inherited mtDNA mutation can contribute to the development of adult-onset parkinsonism and multisystem degeneration.
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“We observed G11778A mtDNA point mutation in a subunit of mitochondrial complex-I in a family with parkinsonism and multisystem degeneration19.”
From Mitochondrial Approaches for Neuroprotection (2008) · cites this paper as [19]
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Cites
Sequence and organization of the human mitochondrial genome
Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H. L., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., et al. (1981) · Nature · doi:10.1038/290457a0 · Cited by 9,740
Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
Polymeropoulos, M. H., Lavedan, C., Leroy, E., Ide, S. E., Dehejia, A., Dutra, A., Pike, B., Root, H., Rubenstein, J., Boyer, R., et al. (1997) · Science · doi:10.1126/science.276.5321.2045 · Cited by 8,240
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
Kitada, T., Asakawa, S., Hattori, N., Matsumine, H., Yamamura, Y., Minoshima, S., Yokochi, M., Mizuno, Y., & Shimizu, N. (1998) · Nature · doi:10.1038/33416 · Cited by 5,227
Mitochondrial diseases in man and mouse
Wallace, D. C. (1999) · Science · doi:10.1126/science.283.5407.1482 · Cited by 3,060
Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies
Holt, I. J., Harding, A. E., & MORGAN-HUGHES, J. A. (1988) · Nature · doi:10.1038/331717a0 · Cited by 1,860
Aging, energy, and oxidative stress in neurodegenerative diseases
Beal, M. F. (1995) · Annals of Neurology · doi:10.1002/ana.410380304 · Cited by 1,434
Self-citationOrigin and functional consequences of the complex I defect in Parkinson's disease
Swerdlow, R. H., Parks, J. K., Miller, S. W., Davis, R. E., Tuttle, J. B., Trimmer, P. A., Sheehan, J. P., Bennett, J. P., & Parker, W. D. (1996) · Annals of Neurology · doi:10.1002/ana.410400417 · Cited by 638
Zeviani, M., Servidei, S., Gellera, C., Bertini, E., DiMauro, S., & DiDonato, S. (1989) · Nature · doi:10.1038/339309a0 · Cited by 636
MITOMAP: a human mitochondrial genome database
Kogelnik, A. M. (1996) · Nucleic Acids Research · doi:10.1093/nar/24.1.177 · Cited by 524
Fearnley, I. M., & Walker, J. E. (1992) · Biochimica et Biophysica Acta (BBA) - Bioenergetics · doi:10.1016/0005-2728(92)90001-i · Cited by 308
Research works printed but not linked: 4
- 10.1002/ana.410400417 · DOI
- Sutton JP, Pulst SM. Atypical parkinsonism in a family of Portuguese ancestry: absence of CAG repeat expansion in the MJD1 gene. Neurology 1997;19:1285–1290.
- Jacobs HT, Elliott DJ, Math VB, Farquharson A. Nucleotide sequence and gene organization of sea urchin mitochondrial DNA. J Mol Biol 1987;202:185–217.
- Howell N, McCullough DA, Kubacka I, Halvorson S, Mackey D. The sequence of human mtDNA: the question of errors versus polymorphisms. Am J Hum Genet 1991;88:139–145.
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Metadata
- Authors
- Simon, D. K., Pulst, S. M., Sutton, J. P., Browne, S. E., Beal, M. F., & Johns, D. R.
- Affiliations
- Cedars-Sinai Medical Center (US)
- Venue
- Neurology
- Published
- 1999-11
- Volume
- 53
- Issue
- 8
- Pages
- 1787-1787
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- OpenAlex
- W1976450563
- Cited by
- 141
- References
- 36
- Citations by year
- 2024: 3 · 2023: 3 · 2022: 2 · 2021: 4 · 2020: 4 · 2019: 7 · 2018: 7 · 2017: 3 · 2016: 6 · 2015: 1 · 2014: 5 · 2013: 6 · 2012: 3
- FWCI
- 6.99
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Neurology (publishedVersion)
- PubMed (publishedVersion)
- Funders
- U.S. Department of Veterans Affairs
- National Institutes of Health (5k08ns001971-03, 5r01ey010864-04)
- National Eye Institute (R01 EY10864)
- National Institute on Deafness and Other Communication Disorders (R01DC003401)
- National Institute of Neurological Disorders and Stroke (1K08NS01971)
- Topics
- Health Sciences › Medicine › Clinical Neurology › Parkinson's Disease Mechanisms and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- mitochondrial DNA mutations, parkinsonism, maternally inherited disease, ND4 gene, complex I dysfunction, heteroplasmy, Leber's hereditary optic neuropathy, familial neurodegeneration, levodopa response
- MeSH terms
- Base Sequence, Brain, DNA, Mitochondrial, Female, Humans, Male, Middle Aged, Pedigree, Genome, Point Mutation, Parkinsonian Disorders
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