Transmission of heteroplasmic G11778A in extensive pedigrees of Thai Leber hereditary optic neuropathy

Journal of Human Genetics

Volumn 51, Issue 12, 2006, Pages 1110-1117

  Phasukkijwatana, Nopasak ^a   Chuenkongkaew, Wanicha L ^a   Suphavilai, Rungnapa ^a   Luangtrakool, Komon ^a   Kunhapan, Bussaraporn ^a   Lertrit, Patcharee ^a  

^a MAHIDOL UNIVERSITY   (Thailand)

Author keywords

G11778A mutation; Leber hereditary optic neuropathy; mtDNA

Indexed keywords

ADENINE; GUANINE; MITOCHONDRIAL DNA;

ALLELE; ARTICLE; CENTRAL SCOTOMA; DISEASE ASSOCIATION; DISEASE TRANSMISSION; FEMALE; HETEROPLASMY; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MALE; MITOCHONDRIAL DNA DISORDER; MUTATIONAL ANALYSIS; PEDIGREE ANALYSIS; POINT MUTATION; THAILAND;

ASIAN CONTINENTAL ANCESTRY GROUP; DNA, MITOCHONDRIAL; HUMANS; MALE; OPTIC ATROPHY, HEREDITARY, LEBER; PEDIGREE; PENETRANCE; POINT MUTATION; PREVALENCE; SURVIVAL ANALYSIS; THAILAND;

EID: 33751293068     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10038-006-0073-6     Document Type: Article

References (24)

1. Battersby BJ, Loredo-Osti JC, Shoubridge EA (2003) Nuclear genetic control of mitochondrial DNA segregation. Nat Genet 33:183-186
2. Bolhuis PA, Bleeker-Wagemakers EM, Ponne NJ, Van Schooneveld MJ, Westerveld A, Van den Bogert C, Tabak HF (1990) Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy. Biochem Biophys Res Commun 170:994-997
3. Chinnery PF, Andrews RM, Turnbull DM, Howell NN (2001) Leber hereditary optic neuropathy: does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? Am J Med Genet 98:235-243
4. Chuenkongkaew WL, Lertrit P, Poonyathalang A, Sura T, Ruangvaravate N, Atchaneeyasakul L, Suphavilai R (2001) Leber's hereditary optic neuropathy in Thailand. Jpn J Ophthalmol 45:665-668
5. Chuenkongkaew WL, Lertrit P, Limwongse C, Nilanont Y, Boonyapisit K, Sangruchi T, Chirapapaisan N, Suphavilai R (2005) An unusual family with Leber's hereditary optic neuropathy and facioscapulohumeral muscular dystrophy. Eur J Neurol 12:388-391
6. Ghosh SS, Fahy E, Bodis-Wollner I, Sherman J, Howell N (1996) Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing. Am J Hum Genet 58:325-334
7. Harding AE, Sweeney MG, Govan GG, Riordan-Eva P (1995) Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am J Hum Genet 57:77-86
8. Howell N, Mackey DA (1998) Low-penetrance branches in matrilineal pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 63:1220-1224
9. Howell N, Xu M, Halvorson S, Bodis-Wollner I, Sherman J (1994) A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation. Am J Hum Genet 55:203-206
10. Howell N, Kubacka I, Keers SM, Turnbull DM, Chinnery PF (2005) Co-segregation and heteroplasmy of two coding-region mtDNA mutations within a matrilineal pedigree. Hum Genet 116:28-32
11. Huoponen K (2001) Leber hereditary optic neuropathy: clinical and molecular genetic findings. Neurogenetics 3:119-125
12. Jacobi FK, Leo-Kottler B, Mittelviefhaus K, Zrenner E, Meyer J, Pusch CM, Wissinger B (2001) Segregation patterns and heteroplasmy prevalence in Leber's hereditary optic neuropathy. Invest Ophthalmol Vis Sci 42:1208-1214
13. Lertrit P, Ruangvaravate N, Trongpanich Y, Imsumran A, Mungkornkarn C, Neungton N (1999) Leber's hereditary optic neuropathy (LHON) with mitochondrial ND4 gene mutation (11778) in a Thai patient. J Med Assoc Thai 82:59-64
14. Mackey DA, Oostra RJ, Rosenberg T, Nikoskelainen E, Bronte-Stewart J, Poulton J, Harding AE, Govan G, Bolhuis PA, Norby S (1996) Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet 59:481-485
15. Man PY, Turnbull DM, Chinnery PF (2002) Leber hereditary optic neuropathy. J Med Genet 39:162-169
16. Man PY, Griffiths PG, Brown DT, Howell N, Turnbull DM, Chinnery PF (2003) The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet 72:333-339
17. Newman NJ, Lott MT, Wallace DC (1991) The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol 111:750-762
18. Nikoskelainen EK, Savontaus ML, Wanne OP, Katila MJ, Nummelin KU (1987) Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees. Arch Ophthalmol 105:665-671
19. Phasukkijwatana N, Chuenkongkaew WL, Suphavilai R, Suktitipat B, Pingsuthiwong S, Ruangvaravate N, Atchaneeyasakul LO, Warrasak S, Poonyathalang A, Sura T, Lertrit P (2006) The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees. J Hum Genet 81:298-304
20. Riordan-Eva P, Sanders MD, Govan GG, Sweeney MG, Da Costa J, Harding AE (1995) The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation. Brain 118:319-337
21. Savontaus ML (1995) mtDNA mutations in Leber's hereditary optic neuropathy. Biochim Biophys Acta 1271:261-263
22. Smith KH, Johns DR, Heher KL, Miller NR (1993) Heteroplasmy in Leber's hereditary optic neuropathy. Arch Ophthalmol 111:1486-1490
23. Tharaphan P, Chuenkongkaew WL, Luangtrakool K, Sanpachudayan T, Suktitipat B, Suphavilai R, Srisawat C, Sura T, Lertrit P (2006) Mitochondrial DNA haplogroup distribution in pedigrees of Southeast Asian G11778A Leber hereditary optic neuropathy. J Neuro-Ophthalmol (in press)
24. Vilkki J, Savontaus ML, Nikoskelainen EK (1990) Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy. Am J Hum Genet 47:95-100