The DOI matches its Crossref record; 36 of the 36 references it cites were found in a registry or an index.
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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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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