A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy

Acta Neurologica Scandinavica

Volumn 121, Issue 2, 2010, Pages 109-113

  Sanaker, P S ^a,b   Nakkestad, H L ^a   Downham, E ^a   Bindoff, L A ^a,b  

^a UNIVERSITY OF BERGEN   (Norway)

^b HAUKELAND UNIVERSITY HOSPITAL   (Norway)

Author keywords

Metabolic brain diseases; Mitochondrial diseases; Mitochondrial genome

Indexed keywords

CARBAMAZEPINE; MITOCHONDRIAL DNA; MITOCHONDRIAL RNA; TRANSFER RNA; TRYPTOPHAN;

ADULT; ARTICLE; AUTOPSY; BRAIN ATROPHY; BRAIN INFARCTION; CASE REPORT; COMPLEX PARTIAL SEIZURE; DISEASE COURSE; ELECTROMYOGRAPHY; GENE SEQUENCE; GRAND MAL SEIZURE; HETEROPLASMY; HUMAN; HUMAN TISSUE; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHY; MITOCHONDRIAL GENE; MOTOR NEUROPATHY; MTTW GENE; MUSCLE BIOPSY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PATHOGENICITY; PEDIGREE ANALYSIS; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RETINITIS PIGMENTOSA; SEQUENCE ANALYSIS; SKELETAL MUSCLE;

AGE OF ONSET; AGED; BASE SEQUENCE; BRAIN; DNA, MITOCHONDRIAL; FEMALE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE, SKELETAL; NUCLEIC ACID CONFORMATION; PEDIGREE; POINT MUTATION; RNA, TRANSFER, TRP; SEQUENCE ANALYSIS, DNA; SIBLINGS;

EID: 74349130376     PISSN: 00016314     EISSN: 16000404     Source Type: Journal    
DOI: 10.1111/j.1600-0404.2009.01243.x     Document Type: Article

References (20)

1. Taylor RW, Turnbull DM. Mitochondrial DNA mutations in human disease. Nat Rev Genet 2005 6 : 389 402.
2. Maassen JA, Lm TH, Van Essen E et al. Mitochondrial diabetes: molecular mechanisms and clinical presentation. Diabetes 2004 53 (Suppl. 1 S103 9.
3. Martinez-Fernandez E, Gil-Peralta A, Garcia-Lozano R et al. Mitochondrial disease and stroke. Stroke 2001 32 : 2507 2510.
4. Downham E, Winterthun S, Nakkestad HL et al. A novel mitochondrial ND5 (MTND5) gene mutation giving isolated exercise intolerance. Neuromuscul Disord 2008 18 : 310 314.
5. Ruiz-Pesini E, Lott MT, Procaccio V et al. An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res 2007 35 : D823 8.
6. Ingman M, Gyllensten U. mtDB: Human Mitochondrial Genome Database, a resource for population genetics and medical sciences. Nucleic Acids Res 2006 34 : D749 51.
7. Anitori R, Manning K, Quan F et al. Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes. Mol Genet Metab 2005 84 : 176 188.
8. Maniura-Weber K, Taylor RW, Johnson MA et al. A novel point mutation in the mitochondrial tRNA(Trp) gene produces a neurogastrointestinal syndrome. Eur J Hum Genet 2004 12 : 509 512.
9. Nelson I, Hanna MG, Alsanjari N, Scaravilli F, Morgan-Hughes JA, Harding AE. A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study. Ann Neurol 1995 37 : 400 403.
10. Sacconi S, Salviati L, Nishigaki Y et al. A functionally dominant mitochondrial DNA mutation. Hum Mol Genet 2008 17 : 1814 1820.
11. Santorelli FM, Tanji K, Sano M et al. Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene. Ann Neurol 1997 42 : 256 260.
12. Silvestri G, Mongini T, Odoardi F et al. A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency. Neurology 2000 54 : 1693 1696.
13. Silvestri G, Rana M, Dimuzio A, Uncini A, Tonali P, Servidei S. A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene. Neuromuscul Disord 1998 8 : 291 295.
14. Tulinius M, Moslemi AR, Darin N et al. Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene. Neuropediatrics 2003 34 : 87 91.
15. Mcfarland R, Elson JL, Taylor RW, Howell N, Turnbull DM. Assigning pathogenicity to mitochondrial tRNA mutations: when 'definitely maybe' is not good enough. Trends Genet 2004 20 : 591 596.
16. Putz J, Dupuis B, Sissler M, Florentz C. Mamit-tRNA, a database of mammalian mitochondrial tRNA primary and secondary structures. RNA 2007 13 : 1184 1190.
17. Chalmers RM, Lamont PJ, Nelson I et al. A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome. Neurology 1997 49 : 589 592.
18. Deschauer M, Swalwell H, Strauss M, Zierz S, Taylor RW. Novel mitochondrial transfer RNA(Phe) gene mutation associated with late-onset neuromuscular disease. Arch Neurol 2006 63 : 902 905.
19. Kirby DM, Boneh A, Chow CW et al. Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease. Ann Neurol 2003 54 : 473 478.
20. Betts J, Jaros E, Perry RH et al. Molecular neuropathology of MELAS: Level of heteroplasmy in individual neurones and evidence of extensive vascular involvement. Neuropathol Appl Neurobiol 2006 32 : 359 373.