mtDNA mutations that cause optic neuropathy: How do we know? [4]

American Journal of Human Genetics

Volumn 62, Issue 1, 1998, Pages 196-202

  Howell, N ^a   Bogolin, C ^a   Jamieson, R ^a   Marenda, D R ^a   Mackey, D A ^a  

^a University of Texas Medical Branch School of Medicine   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; FEMALE; GENE MUTATION; HEREDITARY OPTIC ATROPHY; HUMAN; LETTER; MAJOR CLINICAL STUDY; MALE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; TURKEY (REPUBLIC);

EID: 0031893037     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301675     Document Type: Letter

References (31)

1. S Anderson AT Bankier BG Barrell MHL de Bruijn AR Coulson J Drouin IC Eperon Sequence and organization of the human mitochondrial genome Nature 290 1981 457 465
2. J Brown Jr JH Fingert CM Taylor M Lake VC Sheffield EM Stone Clinical and genetic analysis of a family affected with dominant optic atrophy (OPA1) Arch Ophthalmol 115 1997 95 99
3. MD Brown A Torroni CL Reckord DC Wallace Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations Hum Mutat 6 1995 311 325
4. MD Brown DC Wallace Spectrum of mitochondrial DNA mutations in Leber's hereditary optic neuropathy Clin Neurosci 2 1994 138 145
5. DD De Vries LN Went GW Bruyn HR Scholte RMW Hofstra PA Bolhuis BA van Oost Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia Am J Hum Genet 58 1996 703 711
6. SD Edland JM Silverman ER Peskind D Tsuang E Wijsman JC Morris Increased risk of dementia in mothers of Alzheimer disease cases: evidence for maternal inheritance Neurology 47 1996 254 256
7. N Howell Mitochondrial gene mutations and human diseases: a prolegomenon Am J Hum Genet 55 1994 a 219 224
8. N Howell Primary LHON mutations: trying to separate “fruyt” from “chaf.” Clin Neurosci 2 1994 b 130 137
9. N Howell Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve J Bioenerg Biomembr 29 1997 165 173
10. N Howell I Kubacka S Halvorson B Howell DA McCullough D Mackey Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees Genetics 140 1995 285 302
11. N Howell I Kubacka DA Mackey How rapidly does the human mitochondrial genome evolve? Am J Hum Genet 59 1996 501 509
12. N Howell DA McCullough I Kubacka S Halvorson D Mackey The sequence of human mtDNA: the question of errors versus polymorphisms Am J Hum Genet 50 1992 1333 1337
13. TP Hutchin G Cortopassi A mitochondrial clone is associated with increased risk for Alzheimer disease Proc Natl Acad Sci USA 92 1995 6892 6895
14. TP Hutchin G Cortopassi ultiple origins of a mitochondrial mutation conferring deafness Genetics 145 1997 771 776
15. DR Johns Genotype-specific phenotypes in Leber's hereditary optic neuropathy Clin Neurosci 2 1994 146 150
16. RL Johnson MA Burdon DJ Spalton SP Bryant JT Behnam MJ Seller Dominant optic atrophy, Kjer type: linkage analysis and clinical features in a large British pedigree Arch Ophthalmol 115 1997 100 103
17. AS Jun MD Brown DC Wallace A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia Proc Natl Acad Sci USA 91 1994 6206 6210
18. AM Kogelnik MT Lott MD Brown SB Navathe DC Wallace MITOMAP: a human mitochondrial genome database Nucleic Acids Res 24 1996 177 179
19. B Leo-Kottler M Christ-Adler B Baumann E Zrenner B Wissinger Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND6 gene Ger J Ophthalmol 5 1996 233 240
20. D Mackey N Howell A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology Am J Hum Genet 51 1992 1218 1228
21. DA Mackey R-J Oostra T Rosenberg E Nikoskelainen J Bronte-Stewart J Poulton AE Harding Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy Am J Hum Genet 59 1996 481 485
22. EK Nikoskelainen K Huoponen V Juvonen T Lamminen K Nummelin M-L Savontaus Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations Ophthalmology 103 1996 504 514
23. P Riordan-Eva MD Sanders GG Govan MG Sweeney J Da Costa AE Harding The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation Brain 118 1995 319 338
24. JM Shoffner MD Brown C Stugard AS Jun S Pollock RH Haas A Kaufman Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation Ann Neurol 38 1995 163 169
25. JM Shoffner MD Brown A Torroni MT Lott MF Cabell SS Mirra MF Beal Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients Genomics 17 1993 171 184
26. A Torroni K Huoponen P Francalacci M Petrozzi L Morelli R Scozzari D Obinu Classification of European mtDNAs from an analysis of three European populations Genetics 144 1996 1835 1850
27. A Torroni MT Lott MF Cabell Y-S Chen L Lavergne DC Wallace mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region Am J Hum Genet 55 1994 760 776
28. Gln 4336 mitochondrial DNA variant is not a high penetrance mutation which predisposes to dementia before the age of 75 years J Med Genet 33 1996 1002 1006
29. DC Wallace MT Lott MD Brown K Huoponen A Torroni Report of the Committee on Human Mitochondrial DNA AJ Cuticchia Human gene mapping 1995: a compendium 1995 Johns Hopkins University Press Baltimore 910 954
30. DC Wallace G Singh MT Lott JA Hodge TG Schurr AMS Lezza LJ Elsas Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy Science 242 1988 1427 1430
31. B Wissinger D Besch B Baumann S Fauser M Christ-Adler B Jurklies E Zrenner Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy Biochem Biophys Res Commun 234 1997 511 515