A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy

Annals of Neurology

Volumn 48, Issue 5, 2000, Pages 730-736

  Thyagarajan, Dominic ^a,b   Bressman, Susan ^a   Bruno, Claudio ^a   Przedborski, Serge ^a   Shanske, Sara ^a   Lynch, Timothy ^a   Fahn, Stanley ^a   Dimauro, Salvatore ^a  

^a Department of Orthopaedic Surgery   (United States)

^b ST VINCENT S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOCHROME C OXIDASE; LEVODOPA; MITOCHONDRIAL DNA; MITOCHONDRIAL RNA; RIBOSOME RNA; RNA 12S; TRANSFER RNA; UNCLASSIFIED DRUG;

ARTICLE; BRAIN MITOCHONDRION; CLINICAL ARTICLE; CONTROLLED STUDY; GENE SEQUENCE; HUMAN; HUMAN CELL; OXIDATIVE STRESS; PARKINSONISM; PEDIGREE ANALYSIS; PERCEPTION DEAFNESS; POINT MUTATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN SECONDARY STRUCTURE; RESPIRATORY CHAIN; SENSORY NEUROPATHY;

DNA, MITOCHONDRIAL; FEMALE; GENES, RRNA; HEARING LOSS, SENSORINEURAL; HUMANS; MIDDLE AGED; NERVOUS SYSTEM DISEASES; PARKINSONIAN DISORDERS; PEDIGREE; POINT MUTATION; PROTEIN STRUCTURE, SECONDARY;

EID: 0033768121     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(200011)48:5<730::AID-ANA6>3.0.CO;2-0     Document Type: Article

References (37)

1. Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness
2. Susceptibility mutations in the mitochondrial small ribosomal RNA gene in aminoglycoside induced deafness
3. A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness
4. Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNA(Ser(UCN)) gene
5. Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene
6. A mitochondrial DNA (mtDNA) mutation associated with maternally inherited deafness and Parkinson's disease (PD)
7. Deletions of mitochondrial DNA in Kearns-Sayre syndrome
8. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
9. A new version of the RDP (Ribosomal Database Project)
10. Algorithms and thermodynamics for RNA secondary structure prediction: A practical guide
11. Cytochrome c oxidase deficiency in Leigh syndrome
12. Detailed analysis of the higher-order structure of 16S-like ribosomal ribonucleic acids
13. Collection of small subunit (16S- and 16S-like) ribosomal RNA structures
14. Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nudeus-embedded mtDNA pseudogenes
15. Interaction of antibiotics with functional sites in 16S ribosomal RNA
16. Involvement of bases 787-795 of Escherichia coli 16S ribosomal RNA in ribosomal subunit association
17. Mutation at position 791 in Escherichia coli 16S ribosomal RNA affects processes involved in the initiation of protein synthesis
18. The aminoglycosides
19. Specific binding of aminoglycosides to a human rRNA construct based on a DNA polymorphism which causes aminoglycoside-induced deafness
20. Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: Evidence of heteroplasmy
21. Uptake of amikacin by hair cells of the guinea pig cochlea and vestibule and ototoxicity: Comparison with gentamicin
22. Lysosomal targeting and accumulation of aminoglycoside antibiotics in sensory hair cells
23. Cochlear origin of hearing loss in MELAS syndrome
24. Peripheral neuropathy of mitochondrial myopathies
25. Acute peripheral neuropathy, rhabdomyolysis, and severe lactic acidosis associated with 3243 A to G mitochondrial DNA mutation
26. Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease
27. Mitochondrial encephalopathy with muldple mitochondrial DNA deletions: A report of two families and two sporadic cases with unusual clinical and neuropathological features
28. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
29. Mirochondria in the etiology and pathogenesis of Parkinson's disease
30. Origin and functional consequences of the complex I defect in Parkinson's disease
31. Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease
32. Matrilineal inheritance of complex I dysfunction in a multigenerational Parkinson's disease family
33. Association of the mitochondrial 8344 MERRF mutation with maternally inherited spinocerebellar degeneration and Leigh disease
34. Mitochondrial DNA polymorphisms in pathologically proven Parkinson's disease
35. Mitochondrial dysfunction in Parkinson's disease
36. Parkinson's disease is associated with oxidative damage to cytoplasmic DNA and RNA in substantia nigra neurons
37. Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase