The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS

Annals of Neurology

Volumn 46, Issue 6, 1999, Pages 916-919

  Pulkes, Teeratorn ^a   Eunson, Louise ^a   Patterson, Victor ^b   Siddiqui, Asra ^a   Wood, Nicholas W ^a   Nelson, Isabelle P ^a   Morgan Hughes, John A ^a   Hanna, Michael G ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b Belfast Royal Infirmary   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADOLESCENT; ARTICLE; CASE REPORT; ENCEPHALOMYOPATHY; GENE EXPRESSION; GENE MUTATION; HEREDITARY OPTIC ATROPHY; HUMAN; LACTIC ACIDOSIS; MALE; MELAS SYNDROME; PRIORITY JOURNAL; STROKE;

ADULT; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT COMPLEX I; ELECTRON TRANSPORT COMPLEX IV; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MELAS SYNDROME; MITOCHONDRIA, MUSCLE; MUSCLE, SKELETAL; NADH, NADPH OXIDOREDUCTASES; OPTIC ATROPHIES, HEREDITARY; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 0032707838     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(199912)46:6<916::AID-ANA16>3.0.CO;2-R     Document Type: Article

References (20)

1. Hanna MG, Nelson IP, Morgan-Hughes JA, Wood NW. MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity. J Neurol Neurosurg Psychiatry 1998;65:512-517
2. Morgan-Hughes JA, Sweeney MG, Cooper JM, et al. Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype. Biochim Biophys Acta 1995;1271:135-140
3. Harding AE, Sweeney MG. Leber's hereditary optic neuropathy. Mitochondrial disorders in neurology. 1st ed. Oxford: Butterworth-Heinmemann, 1994:181-198
4. Santorelli FM, Tanji K, Kulikova R, et al. Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. Biochem Biophy Res Commun 1997;238:326-328
5. Hanna MG, Nelson IP, Rahman S, et al. Cytochrome c oxidase associated with the first stop-codon point mutation in human mtDNA. Am J Hum Genet 1998;63:29-36
6. Anderson S, Bankier T, Barrell G, et al. Sequence and organization of the human mitochondrial genome. Nature 1981;290: 457-465
7. Goto Y, Nonaka I, Horai S. A new mitochondrial DNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochem Biophys Acta 1991;1097:238-240
8. Morten KJ, Cooper JM, Brown GK, et al. A new point mutation associated with mitochondrial encephalomyopathy. Hum Mol Genet 1993;2:2081-2087
9. Taylor RW, Chinnery PF, Haldane F, et al. MELAS associated with a mutation in the valine transfer RNA gene of mitochondrial DNA. Ann Neurol 1996;40:459-462
10. Nishino I, Komatsu M, Kodama S, et al. The 3260 mutation in mitochondrial DNA can cause mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Muscle Nerve 1996;19:1603-1604
11. Manfredi G, Schon EA, Bonilla E, et al. Identification of a mutation in the mitochondnal tRNA (Cys) gene associated with mitochondrial encephalomyopathy. Hum Mutat 1996;7:158-163
12. Manfredi G, Schon EA, Moraes CT, et al. A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene. Neuromuscul Disord 1995;5:391-398
13. Sato W, Hayasaka K, Shoji Y, et al. A mitochondrial tRNA Leu(UUR) mutation at 3256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Biochem Mol Biol Int 1994;33:1055-1061
14. Lcu[3243]) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation. Neurology 1993;43:1586-1590
15. Nelson I, Hanna MG, Alsanjarni N, et al. A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study. Ann Neurol 1995;37:400-403
16. Dupuis A, Darrouzet E, Duborjal H, et al. Distal genes of the nuo-opeton of Rhodobacter capsulatus equivalent to the mitochondrial ND subunits are all essential for the biogenesis of the respiratory NADH-ubiquinone oxidoreductase. Mol Microbiol 1998;28:531-541
17. Hofhuas D, Attardi G. Efficient selection and chatacterisation of mutants of a human cell line which are defective in mitochondrial DNA-encoded subunits of respiratory chain NADH dehydrogenase. Mol Cell Biol 1995;15:964-974
18. Howell N, Kubacka I, Halvarson S, et al. Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees. Genetics 1995;140:285-302
19. Marzuki S, Noer AS, Letrit P, et al. Normal variants of human mitochondrial DNA and translation products: the building of a reference database. Hum Genet 1991;88:139-145
20. Houshmand M, Larsson NG, Holme E, et al. Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy. Biochim Biophys Acta 1994; 1226:49-5