Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy

Annals of Neurology

Volumn 51, Issue 6, 2002, Pages 774-778

  Valentino, Maria Lucia ^a   Avoni, Patrizia ^a   Barboni, Piero ^b   Pallotti, Francesco ^c   Rengo, Chiara ^d,e   Torroni, Antonio ^d,f   Bellan, Marzio ^a   Baruzzi, Agostino ^a   Carelli, Valerio ^a  

^a UNIVERSITY OF BOLOGNA   (Italy)

^b Centro Salus   (Italy)

^c New York Presbyterian Columbia University Medical Center   (United States)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

^e CATHOLIC UNIVERSITY   (Italy)

^f UNIVERSITY OF PAVIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; CYTOSINE; MITOCHONDRIAL DNA; NUCLEOTIDE;

ADOLESCENT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; DNA DETERMINATION; GENE MUTATION; GENE SEQUENCE; HEREDITARY OPTIC ATROPHY; HUMAN; ITALY; MALE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; VISUAL FIELD;

ADOLESCENT; ADULT; CHILD; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; FEMALE; HUMANS; ITALY; MALE; MUTATION; NADH, NADPH OXIDOREDUCTASES; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; VISUAL FIELDS;

EID: 0036260961     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10193     Document Type: Article

References (18)

1. Leber's hereditary optic neuropathy
2. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy
3. Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation
4. Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families
5. mtDNA mutations that cause optic neuropathy: How do we know?
6. Mutation analysis of the ND6 gene in patients with Leber's hereditary optic neuropathy
7. The A1555G mutation in the 12S rRNA gene of human mtDNA: Recurrent origins and founder events in families affected by sensorineural deafness
8. Sequence and organization of the human mitochondrial genome
9. Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484
10. Tracing European founder lineages in the Near Eastern mtDNA pool
11. Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy
12. Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia
13. Mutations in mtDNA: Are we scraping the bottom of the barrel?
14. Mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
15. Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage
16. Population genetics and disease susceptibility: Characterization of central European haplogroups by mtDNA mutations, correlation with D loop variants and association with disease
17. Detection of the mtDNA 14484 mutation on an African- specific haplotype: Implications about its role in causing Leber hereditary optic neuropathy