Variation in MAPT is not a contributing factor to the incomplete penetrance in LHON

Mitochondrion

Volumn 11, Issue 4, 2011, Pages 620-622

  Hudson, Gavin ^a   Yu Wai Man, Patrick ^a,b   Griffiths, Philip G ^b   Horvath, Rita ^a   Carelli, Valerio ^c   Zeviani, Massimo ^d   Chinnery, Patrick F ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b ROYAL VICTORIA INFIRMARY   (United Kingdom)

^c UNIVERSITY OF BOLOGNA   (Italy)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

Author keywords

LHON; MAPT; Mitochondria; Neurodegeneration; Optic neuropathy; Tau

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ARTICLE; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC VARIABILITY; GENOTYPE; HUMAN; LEBER HEREDITARY OPTIC NEUROPATHY; MAJOR CLINICAL STUDY; MALE; MAPT GENE; ONSET AGE; PENETRANCE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; RISK FACTOR; SEX DIFFERENCE; SINGLE NUCLEOTIDE POLYMORPHISM;

AGE OF ONSET; BLINDNESS; COHORT STUDIES; DNA, MITOCHONDRIAL; FEMALE; GENE FREQUENCY; HAPLOTYPES; HETEROZYGOTE; HUMANS; MALE; MUTATION; OPTIC ATROPHY, HEREDITARY, LEBER; PENETRANCE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS; TAU PROTEINS; YOUNG ADULT;

EID: 79957947156     PISSN: 15677249     EISSN: 18728278     Source Type: Journal    
DOI: 10.1016/j.mito.2011.03.004     Document Type: Article

References (26)

1. Baker M., Litvan I., Houlden H., Adamson J., Dickson D., Perez-Tur J., Hardy J., Lynch T., Bigio E., Hutton M. Association of an extended haplotype in the tau gene with progressive supranuclear palsy. Hum. Mol. Genet. 1999, 8(4):711-715.
2. Barboni P., Savini G., Valentino M.L., Montagna P., Cortelli P., De Negri A.M., Sadun F., Bianchi S., Longanesi L., Zanini M., de Vivo A., Carelli V. Retinal nerve fiber layer evaluation by optical coherence tomography in Leber's hereditary optic neuropathy. Ophthalmology 2005, 112(1):120-126.
3. Brown M.D., Allen J.C., Van Stavern G.P., Newman N.J., Wallace D.C. Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 primary mutations. Am. J. Med. Genet. 2001, 104(4):331-338.
4. Bu X., Rotter J.I. X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy: evidence from segregation analysis for dependence on X chromosome inactivation. Proc. Natl Acad. Sci. U.S.A. 1991, 88:8198-8202.
5. Bugiani O., Murrell J.R., Giaccone G., Hasegawa M., Ghigo G., Tabaton M., Morbin M., Primavera A., Carella F., Solaro C., Grisoli M., Savoiardo M., Spillantini M.G., Tagliavini F., Goedert M., Ghetti B. Frontotemporal dementia and corticobasal degeneration in a family with a P301S mutation in tau. J. Neuropathol. Exp. Neurol. 1999, 58(6):667-677.
6. Carelli V., Ross-Cisneros F.N., Sadun A.A. Mitochondrial dysfunction as a cause of optic neuropathies. Prog. Retin. Eye Res. 2004, 23(1):53-89.
7. Chen J.D., Denton M.J. X-chromosomal gene in Leber hereditary optic neuroretinopathy. Am. J. Hum. Genet. 1991, 49(3):692-693.
8. Delisle M.B., Murrell J.R., Richardson R., Trofatter J.A., Rascol O., Soulages X., Mohr M., Calvas P., Ghetti B. A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy. Acta Neuropathol. 1999, 98(1):62-77.
9. Ghelli A., Zanna C., Porcelli A.M., Schapira A.H., Martinuzzi A., Carelli V., Rugolo M. Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium. J. Biol. Chem. 2003, 278(6):4145-4150.
10. Gordon D., Levenstien M.A., Finch S.J., Ott J. Errors and linkage disequilibrium interact multiplicatively when computing sample sizes for genetic case-control association studies. Pac. Symp. Biocomput. 2003, 490-501.
11. Goris A., Williams-Gray C.H., Clark G.R., Foltynie T., Lewis S.J., Brown J., Ban M., Spillantini M.G., Compston A., Burn D.J., Chinnery P.F., Barker R.A., Sawcer S.J. Tau and alpha-synuclein in susceptibility to, and dementia in, Parkinson's disease. Ann. Neurol. 2007, 62(2):145-153.
12. Guy J., Shaw G., Ross-Cisneros F.N., Quiros P., Salomao S.R., Berezovsky A., Carelli V., Feuer W.J., Sadun A.A. Phosphorylated neurofilament heavy chain is a marker of neurodegeneration in Leber hereditary optic neuropathy (LHON). Mol. Vis. 2008, 14:2443-2450.
13. 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. 1995, 57(1):77-86.
14. Hofhaus G., Johns D.R., Hurko O., Attardi G., Chomyn A. Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy. J. Biol. Chem. 1996, 271(22):13155-13161.
15. Hudson G., Keers S., Yu Wai Man P., Griffiths P., Huoponen K., Savontaus M.L., Nikoskelainen E., Zeviani M., Carrara F., Horvath R., Karcagi V., Spruijt L., de Coo I.F., Smeets H.J., Chinnery P.F. Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder. Am. J. Hum. Genet. 2005, 77(6):1086-1091.
16. Hudson G., Carelli V., Spruijt L., Gerards M., Mowbray C., Achilli A., Pyle A., Elson J., Howell N., La Morgia C., Valentino M.L., Huoponen K., Savontaus M.L., Nikoskelainen E., Sadun A.A., Salomao S.R., Belfort R., Griffiths P., Man P.Y., de Coo R.F., Horvath R., Zeviani M., Smeets H.J., Torroni A., Chinnery P.F. Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am. J. Hum. Genet. 2007, 81(2):228-233.
17. Laws S.M., Perneczky R., Drzezga A., Diehl-Schmid J., Ibach B., Bauml J., Eisele T., Forstl H., Kurz A., Riemenschneider M. Association of the tau haplotype H2 with age at onset and functional alterations of glucose utilization in frontotemporal dementia. Am. J. Psychiatry 2007, 164(10):1577-1584.
18. Petzold A. Neurofilament phosphoforms: surrogate markers for axonal injury, degeneration and loss. J. Neurol. Sci. 2005, 233(1-2):183-198.
19. Petzold A., Gveric D., Groves M., Schmierer K., Grant D., Chapman M., Keir G., Cuzner L., Thompson E.J. Phosphorylation and compactness of neurofilaments in multiple sclerosis: indicators of axonal pathology. Exp. Neurol. 2008, 213(2):326-335.
20. Rizzini C., Goedert M., Hodges J.R., Smith M.J., Jakes R., Hills R., Xuereb J.H., Crowther R.A., Spillantini M.G. Tau gene mutation K257T causes a tauopathy similar to Pick's disease. J. Neuropathol. Exp. Neurol. 2000, 59(11):990-1001.
21. Sherry S.T., Ward M.H., Kholodov M., Baker J., Phan L., Smigielski E.M., Sirotkin K. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 2001, 29(1):308-311.
22. Skipper L., Wilkes K., Toft M., Baker M., Lincoln S., Hulihan M., Ross O.A., Hutton M., Aasly J., Farrer M. Linkage disequilibrium and association of MAPT H1 in Parkinson disease. Am. J. Hum. Genet. 2004, 75(4):669-677.
23. Taylor, R.W., Taylor, G.A., Durham, S.E., Turnbull, D.M., 2001. The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations. Nucleic Acids Res. 29 (15) (Aug. 1), E74-4.
24. Thies E., Mandelkow E.M. Missorting of tau in neurons causes degeneration of synapses that can be rescued by the kinase MARK2/Par-1. J. Neurosci. 2007, 27(11):2896-2907.
25. Tobin J.E., Latourelle J.C., Lew M.F., Klein C., Suchowersky O., Shill H.A., Golbe L.I., Mark M.H., Growdon J.H., Wooten G.F., Racette B.A., Perlmutter J.S., Watts R., Guttman M., Baker K.B., Goldwurm S., Pezzoli G., Singer C., Saint-Hilaire M.H., Hendricks A.E., Williamson S., Nagle M.W., Wilk J.B., Massood T., Laramie J.M., DeStefano A.L., Litvan I., Nicholson G., Corbett A., Isaacson S., Burn D.J., Chinnery P.F., Pramstaller P.P., Sherman S., Al-hinti J., Drasby E., Nance M., Moller A.T., Ostergaard K., Roxburgh R., Snow B., Slevin J.T., Cambi F., Gusella J.F., Myers R.H. Haplotypes and gene expression implicate the MAPT region for Parkinson disease: the GenePD Study. Neurology 2008, 71(1):28-34.
26. Vandrovcova J., Pittman A.M., Malzer E., Abou-Sleiman P.M., Lees A.J., Wood N.W., de Silva R. Association of MAPT haplotype-tagging SNPs with sporadic Parkinson's disease. Neurobiol. Aging 2009, 30(9):1477-1482.