An mtDNA mutation, 14453GτA, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome

European Journal of Human Genetics

Volumn 9, Issue 10, 2001, Pages 805-809

  Ravn, Kirstine ^a   Wibrand, Flemming ^b   Hansen, Flemming Juul ^a   Horn, Nina ^b   Rosenberg, Thomas ^b   Schwartz, Marianne ^a  

^a University of Copenhagen   (Denmark)

^b JOHN F KENNEDY INSTITUTE   (Denmark)

Author keywords

MELAS; mtDNA; ND6

Indexed keywords

ADENINE; ALANINE; GUANINE; MITOCHONDRIAL DNA; POLYPEPTIDE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); VALINE;

AMINO ACID SUBSTITUTION; ARTICLE; BLOOD; CASE REPORT; CONTROLLED STUDY; DISEASE SEVERITY; ENCEPHALOMYOPATHY; ENZYME ACTIVITY; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; HUMAN; LACTIC ACIDOSIS; MELAS SYNDROME; MOTHER; MUSCLE TISSUE; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; RESPIRATORY CHAIN; STROKE;

BASE SEQUENCE; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MELAS SYNDROME; MITOCHONDRIA, MUSCLE; MUTATION; NADH DEHYDROGENASE; PROTEIN SUBUNITS; RESTRICTION MAPPING;

EID: 0034747856     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200712     Document Type: Article

References (24)

1. Mitochondrial Encephalopathies
2. A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients
3. Mitochondrial DNA and disease
4. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy
5. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy
6. An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy
7. A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary neuropathy and dystonia
8. Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation
9. Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR
10. Sequence and organisation of the human mitochondrial genome
11. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA
12. Mutations in the gene encoding 21-hydroxylase detected by solid-phase minisequencing
13. An evaluation of the measurement of the activities of complexes I-IV in the respiratory chain of human skeletal muscle mitochondria
14. Development and evaluation of a spectrophotometric assay for complex III in isolated mitochondria, tissues and fibroblasts from rats and humans
15. Citrate synthase
16. Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia
17. Leber hereditary optic neuropathy: Involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation
18. mtDNA mutations that cause optic neuropathy: How do we know?
19. The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy
20. The mtDNA-encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme
21. Biochemical features of mtDNA 14484(ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy
22. 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
23. The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy