Segregation pattern and biochemical effect of the G3460A mtDNA mutation in 27 members of LHON family

Journal of the Neurological Sciences

Volumn 223, Issue 2, 2004, Pages 149-155

  Kaplanová, Vilma ^a   Zeman, Jiří ^b   Hansíková, Hana ^b   Černá, Leona ^b   Houšt'ková, Hana ^b   Mišovicová, Naděžda ^c   Houštěk, Josef ^a  

^a INSTITUTE OF MATHEMATICS   (Czech Republic)

^b CHARLES UNIVERSITY   (Czech Republic)

^c University Children's Hospital   (Slovakia)

Author keywords

citrate synthase; Complex I (NADH dehydrogenase); CS; G3460A mutation; Leber's hereditary optic neuropathy; LHON; Mitochondrial DNA; mitochondrial DNA; mtDNA; Nuclear background; oxidative phosphorylation; OXPHOS; Segregation

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; BIOCHEMISTRY; CLINICAL ARTICLE; CONTROLLED STUDY; CORRELATION ANALYSIS; DNA SEQUENCE; ENZYME ASSAY; GENE EXPRESSION; GENE MUTATION; GENE SEGREGATION; HAIR FOLLICLE; HUMAN; HYPOTHESIS; LEBER HEREDITARY OPTIC NEUROPATHY; LONGITUDINAL STUDY; MITOCHONDRION; PRIORITY JOURNAL; RESPIRATORY CHAIN; TISSUE SPECIFICITY;

ALANINE; ANALYSIS OF VARIANCE; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; FAMILY HEALTH; FEMALE; GLYCINE; HUMANS; LONGITUDINAL STUDIES; MALE; NAD; OPTIC ATROPHY, HEREDITARY, LEBER; OXIDOREDUCTASES; PEDIGREE; POINT MUTATION; ROTENONE;

EID: 4444312943     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2004.05.001     Document Type: Article

References (37)

1. MITOMAP: A Human Mitochondrial Genome Database. http://www.mitomap.org.
2. Online Mendelian Inheritance in Man OTJHU, Baltimore, MD. http://www.ncbi.nlm.nih.gov/Omim/ MIM Number: #535000.
3. Majander A., Huoponen K., Savontaus M.L., Nikoskelainen E., Wikstrom M. Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON). FEBS Lett. 292:1991;289-292
4. Smith P.R., Cooper J.M., Govan G.G., Harding A.E., Schapira A.H. Platelet mitochondrial function in Leber's hereditary optic neuropathy. J. Neurol. Sci. 122:1994;80-83
5. Cock H.R., Tabrizi S.J., Cooper J.M., Schapira A.H. The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy. Ann. Neurol. 44:1998;187-193
6. Brown M.D., Trounce I.A., Jun A.S., Allen J.C., Wallace D.C. Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation. J. Biol. Chem. 275:2000;39831-39836
7. Degli Esposti M., Carelli V., Ghelli A., et al. Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy. FEBS Lett. 352:1994;375-379
8. Carelli V., Ghelli A., Ratta M., et al. Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype. Neurology. 48:1997;1623-1632
9. Lodi R., Carelli V., Cortelli P., et al. Phosphorus MR spectroscopy shows a tissue specific in vivo distribution of biochemical expression of the G3460A mutation in Leber's hereditary optic neuropathy. J. Neurol. Neurosurg. Psychiatry. 72:2002;805-807
10. Wong A.C.L., Collins-Schramm H.E., Seldin M.F., McGrogan M., Savontaus M.L., Cortopassi G.A. Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells. Hum. Mol. Genet. 11:2002;431-438
11. Carelli V., Giordano C., d'Amati G. Pathogenic expression of homoplasmic mtDNA mutations needs a complex nuclear-mitochondrial interaction. Trends Genet. 19:2003;257-262
12. Delettre C., Lenaers G., Griffoin J.M., et al. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat. Genet. 26:2000;207-210
13. Alexander C., Votruba M., Pesch U.E., et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat. Genet. 26:2000;211-215
14. Fox J.E.B.R.C.C., Boyles J.K. Studying the platelet cytoskeleton in triton X-lysates. Methods Enzymol. 215:1992;42-48
15. Juvonen V., Nikoskelainen E., Lamminen T., Penttinen M., Aula P., Savontaus M.L. Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy. Human Mutat. 9:1997;412-417
16. Rustin P., Chretien D., Bourgeron T., et al. Biochemical and molecular investigations in respiratory chain deficiencies. Clin. Chim. Acta. 228:1994;35-51
17. Srere P.A. Citrate synthase. Methods Enzymol. 13:1969;3-26
18. Lowry O.H., Rosebrough N.J., Farr A.L., Randall R.J. Protein measurement with Folin phenol reagent. J. Biol. Chem. 193:1951;265-275
19. Zhu D.P., Economou E.P., Antonarakis S.E., Maumenee I.H. Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy. Am. J. Med. Genet. 42:1992;173-179
20. Smith K.H., Johns D.R., Heher K.L., Miller N.R. Heteroplasmy in Leber's hereditary optic neuropathy. Arch. Ophthalmol. 111:1993;1486-1490
21. Cock H.R., Cooper J.M., Schapira A.H. Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. J. Neurol. Sci. 165:1999;10-17
22. Kunz W.S., Vielhaber S., Kudin A., et al. Bioenergetic consequences of homoplasmic LHON mutations. 12th European bioenergetics conference. 2002;189 Elsevier, Arcachon, France
23. Harding A.E., Sweeney M.G., Govan G.G., Riordan-Eva P. Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am. J. Hum. Genet. 57:1995;77-86
24. Chinnery P.F., Andrews R.M., Turnbull D.M., Howell N.N. Leber hereditary optic neuropathy: does heteroplasmy influence the inheritance and expression of the G11778A mitochondrial DNA mutation? Am. J. Med. Genet. 98:2001;235-243
25. Howell N., Xu M., Halvorson S., Bodis-Wollner I., Sherman J. A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation. Am. J. Hum. Genet. 55:1994;203-206
26. Yen M.Y., Yen T.C., Pang C.Y., Liu J.H., Wei Y.H. Mitochondrial DNA mutation in Leber's hereditary optic neuropathy. Invest. Ophthalmol. Vis. Sci. 33:1992;2561-2566
27. Cormier V., Rotig A., Geny C., Cesaro P., Dufier J.L., Munnich A. mtDNA heteroplasmy in Leber hereditary optic neuroretinopathy. Am. J. Hum. Genet. 48:1991;813-814
28. Ghazizadeh S., Taichman L.B. Multiple classes of stem cells in cutaneous epithelium: a lineage analysis of adult mouse skin. EMBO J. 20:2001;1215-1222
29. Grzybowski T., Malyarchuk B.A., Czarny J., Miscicka-Sliwka D., Kotzbach R. High levels of mitochondrial DNA heteroplasmy in single hair roots: reanalysis and revision. Electrophoresis. 24:2003;1159-1165
30. Jenuth J.P., Peterson A.C., Fu K., Shoubridge E.A. Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nat. Genet. 14:1996;146-151
31. Vergani L., Rossi R., Brierley C.H., Hanna M., Holt I.J. Introduction of heteroplasmic mitochondrial DNA (mtDNA) from a patient with NARP into two human rho degrees cell lines is associated either with selection and maintenance of NARP mutant mtDNA or failure to maintain mtDNA. Hum. Mol. Genet. 8:1999;1751-1755
32. Howell N., Mackey D.A. Low-penetrance branches in matrilineal pedigrees with Leber hereditary optic neuropathy [letter]. Am. J. Hum. Genet. 63:1998;1220-1224
33. Johns D.R., Smith K.H., Miller N.R., Sulewski M.E., Bias W.B. Identical twins who are discordant for Leber's hereditary optic neuropathy. Arch. Ophthalmol. 111:1993;1491-1494
34. Tsao K., Aitken P.A., Johns D.R. Smoking as an aetiological factor in a pedigree with Leber's hereditary optic neuropathy. Br. J. Ophthalmol. 83:1999;577-581
35. Kerrison J.B., Miller N.R., Hsu F., et al. A case-control study of tobacco and alcohol consumption in Leber hereditary optic neuropathy. Am. J. Ophthalmol. 130:2000;803-812
36. Ghosh S.S., Fahy E., Bodis-Wollner I., Sherman J., Howell N. Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing. Am. J. Hum. Genet. 58:1996;325-334
37. Howell N., Ghosh S.S., Fahy E., Bindoff L.A. Longitudinal analysis of the segregation of mtDNA mutations in heteroplasmic individuals. J. Neurol. Sci. 172:2000;1-6