Mitochondrial transcription factor A variants and the risk of Parkinson's disease

Neuroscience Letters

Volumn 469, Issue 1, 2010, Pages 24-29

  Gaweda Walerych, Katarzyna ^a   Safranow, Krzysztof ^b   Maruszak, Aleksandra ^a   Bialecka, Monika ^b   Klodowska Duda, Gabriela ^c   Czyzewski, Krzysztof ^d   Slawek, Jaroslaw ^e   Rudzinska, Monika ^f   Styczynska, Maria ^a   Opala, Grzegorz ^c   Drozdzik, Marek ^b   Kurzawski, Maciej ^b   Szczudlik, Andrzej ^f   Canter, Jeffrey A ^g   Barcikowska, Maria ^a   Zekanowski, Cezary ^a  

^a MOSSAKOWSKI MEDICAL RESEARCH CENTRE   (Poland)

^b POMERANIAN MEDICAL UNIVERSITY   (Poland)

^c MEDICAL UNIVERSITY OF SILESIA   (Poland)

^d CENTRAL CLINICAL HOSPITAL OF THE MINISTRY OF INTERIOR   (Poland)

^e ST ADALBERT HOSPITAL   (Poland)

^f JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^g VANDERBILT UNIVERSITY   (United States)

Author keywords

Mitochondrial haplogroup clusters; Parkinson's disease; TFAM

Indexed keywords

GUANOSINE; MITOCHONDRIAL DNA; REGULATOR PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR A; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DNA POLYMORPHISM; FEMALE; GENE CLUSTER; GENE FREQUENCY; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; INTRON; MAJOR CLINICAL STUDY; MALE; MITOCHONDRIAL RESPIRATION; OXIDATIVE PHOSPHORYLATION UNCOUPLING; PARKINSON DISEASE; PRIORITY JOURNAL; RISK ASSESSMENT;

ADULT; AGED; AGED, 80 AND OVER; DNA-BINDING PROTEINS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; HAPLOTYPES; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; MITOCHONDRIAL PROTEINS; MULTIGENE FAMILY; OXIDATIVE PHOSPHORYLATION; PARKINSON DISEASE; RISK; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 72649095199     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.neulet.2009.11.037     Document Type: Article

References (32)

1. Abou-Sleiman P.M., Muqit M.M., and Wood N.W. Expanding insights of mitochondrial dysfunction in Parkinson's disease. Nat. Rev. Neurosci. 7 (2006) 207-219
2. Alam T.I., Kanki T., Muta T., Ukaji K., Abe Y., Nakayama H., Takio K., Hamasaki N., and Kang D. Human mitochondrial DNA is packaged with TFAM. Nucl. Acids Res. 31 (2003) 1640-1645
3. Alvarez V., Corao A.I., Alonso-Montes C., Sanchez-Ferrero E., De Mena L., Morales B., Garcia-Castro M., and Coto E. Mitochondrial transcription factor A (TFAM) gene variation and risk of late-onset Alzheimer's disease. J. Alzheimers Dis. 13 (2008) 275-280
4. Alvarez V., Corao A.I., Sanchez-Ferrero E., De Mena L., Alonso-Montes C., Huerta C., Blazquez M., Ribacoba R., Guisasola L.M., Salvador C., Garcia-Castro M., and Coto E. Mitochondrial transcription factor A (TFAM) gene variation in Parkinson's disease. Neurosci. Lett. 432 (2008) 79-82
5. Bannai H., Tamada Y., Maruyama O., Nakai K., and Miyano S. Extensive feature detection of N-terminal protein sorting signals. Bioinformatics 18 (2002) 298-305
6. Belin A.C., Bjork B.F., Westerlund M., Galter D., Sydow O., Lind C., Pernold K., Rosvall L., Hakansson A., Winblad B., Nissbrandt H., Graff C., and Olson L. Association study of two genetic variants in mitochondrial transcription factor A (TFAM) in Alzheimer's and Parkinson's disease. Neurosci. Lett. 420 (2007) 257-262
7. Dairaghi D.J., Shadel G.S., and Clayton D.A. Addition of a 29 residue carboxyl-terminal tail converts a simple HMG box-containing protein into a transcriptional activator. J. Mol. Biol. 249 (1995) 11-28
8. Di Rienzo A., and Hudson R.R. An evolutionary framework for common diseases: the ancestral-susceptibility model. Trends Genet. 21 (2005) 596-601
9. Ekstrand M.I., Terzioglu M., Galter D., Zhu S., Hofstetter C., Lindqvist E., Thams S., Bergstrand A., Hansson F.S., Trifunovic A., Hoffer B., Cullheim S., Mohammed A.H., Olson L., and Larsson N.G. Progressive parkinsonism in mice with respiratory-chain-deficient dopamine neurons. Proc. Natl. Acad. Sci. U.S.A. 104 (2007) 1325-1330
10. Fung H.C., Scholz S., Matarin M., Simon-Sanchez J., Hernandez D., Britton A., Gibbs J.R., Langefeld C., Stiegert M.L., Schymick J., Okun M.S., Mandel R.J., Fernandez H.H., Foote K.D., Rodriguez R.L., Peckham E., De Vrieze F.W., Gwinn-Hardy K., Hardy J.A., and Singleton A. Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol. 5 (2006) 911-916
11. Gaweda-Walerych K., Maruszak A., Safranow K., Bialecka M., Klodowska-Duda G., Czyzewski K., Slawek J., Rudzinska M., Styczynska M., Opala G., Drozdzik M., Canter J.A., Barcikowska M., and Zekanowski C. Mitochondrial DNA haplogroups and subhaplogroups are associated with Parkinson's disease risk in a Polish PD cohort. J. Neural. Transm. 115 (2008) 1521-1526
12. Ghezzi D., Marelli C., Achilli A., Goldwurm S., Pezzoli G., Barone P., Pellecchia M.T., Stanzione P., Brusa L., Bentivoglio A.R., Bonuccelli U., Petrozzi L., Abbruzzese G., Marchese R., Cortelli P., Grimaldi D., Martinelli P., Ferrarese C., Garavaglia B., Sangiorgi S., Carelli V., Torroni A., Albanese A., and Zeviani M. Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians. Eur. J. Hum. Genet. 13 (2005) 748-752
13. Gunther C., von Hadeln K., Muller-Thomsen T., Alberici A., Binetti G., Hock C., Nitsch R.M., Stoppe G., Reiss J., Gal A., and Finckh U. Possible association of mitochondrial transcription factor A (TFAM) genotype with sporadic Alzheimer disease. Neurosci. Lett. 369 (2004) 219-223
14. Hayashi Y., Yoshida M., Yamato M., Ide T., Wu Z., Ochi-Shindou M., Kanki T., Kang D., Sunagawa K., Tsutsui H., and Nakanishi H. Reverse of age-dependent memory impairment and mitochondrial DNA damage in microglia by an overexpression of human mitochondrial transcription factor A in mice. J. Neurosci. 28 (2008) 8624-8634
15. Huang X., Chen P.C., and Poole C. APOE-[epsilon]2 allele associated with higher prevalence of sporadic Parkinson disease. Neurology 62 (2004) 2198-2202
16. Hull J., Campino S., Rowlands K., Chan M.S., Copley R.R., Taylor M.S., Rockett K., Elvidge G., Keating B., Knight J., and Kwiatkowski D. Identification of common genetic variation that modulates alternative splicing. PLoS Genet. 3 (2007) e99
17. Keeney P.M., Quigley C.K., Dunham L.D., Papageorge C.M., Iyer S., Thomas R.R., Schwarz K.M., Trimmer P.A., Khan S.M., Portell F.R., Bergquist K.E., and Bennett Jr. J.P. Mitochondrial gene therapy augments mitochondrial physiology in a Parkinson's disease cell model. Hum. Gene Ther. 20 (2009) 897-907
18. Kuroda Y., Mitsui T., Kunishige M., Shono M., Akaike M., Azuma H., and Matsumoto T. Parkin enhances mitochondrial biogenesis in proliferating cells. Hum. Mol. Genet. 15 (2006) 883-895
19. Larsson N.G., Wang J., Wilhelmsson H., Oldfors A., Rustin P., Lewandoski M., Barsh G.S., and Clayton D.A. Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice. Nat. Genet. 18 (1998) 231-236
20. Maraganore D.M., de Andrade M., Lesnick T.G., Strain K.J., Farrer M.J., Rocca W.A., Pant P.V., Frazer K.A., Cox D.R., and Ballinger D.G. High-resolution whole-genome association study of Parkinson disease. Am. J. Hum. Genet. 77 (2005) 685-693
21. Maruszak A., Canter J.A., Styczynska M., Zekanowski C., and Barcikowska M. Mitochondrial haplogroup H and Alzheimer's disease-is there a connection?. Neurobiol. Aging 30 (2008) 1749-1755
22. Montiel-Sosa F., Ruiz-Pesini E., Enriquez J.A., Marcuello A., Diez-Sanchez C., Montoya J., Wallace D.C., and Lopez-Perez M.J. Differences of sperm motility in mitochondrial DNA haplogroup U sublineages. Gene 368 (2006) 21-27
23. Nalla V.K., and Rogan P.K. Automated splicing mutation analysis by information theory. Hum. Mutat. 25 (2005) 334-342
24. Noack H., Bednarek T., Heidler J., Ladig R., Holtz J., and Szibor M. TFAM-dependent and independent dynamics of mtDNA levels in C2C12 myoblasts caused by redox stress. Biochim. Biophys. Acta 1760 (2006) 141-150
25. Pastukh V., Shokolenko I., Wang B., Wilson G., and Alexeyev M. Human mitochondrial transcription factor A possesses multiple subcellular targeting signals. FEBS J. 274 (2007) 6488-6499
26. Pyle A., Foltynie T., Tiangyou W., Lambert C., Keers S.M., Allcock L.M., Davison J., Lewis S.J., Perry R.H., Barker R., Burn D.J., and Chinnery P.F. Mitochondrial DNA haplogroup cluster UKJT reduces the risk of PD. Ann. Neurol. 57 (2005) 564-567
27. Rogan P.K., Faux B.M., and Schneider T.D. Information analysis of human splice site mutations. Hum. Mutat. 12 (1998) 153-171
28. Ruiz-Pesini E., Lapena A.C., Diez-Sanchez C., Perez-Martos A., Montoya J., Alvarez E., Diaz M., Urries A., Montoro L., Lopez-Perez M.J., and Enriquez J.A. Human mtDNA haplogroups associated with high or reduced spermatozoa motility. Am. J. Hum. Genet. 67 (2000) 682-696
29. Ruiz-Pesini E., Mishmar D., Brandon M., Procaccio V., and Wallace D.C. Effects of purifying and adaptive selection on regional variation in human mtDNA. Science 303 (2004) 223-226
30. van der Walt J.M., Nicodemus K.K., Martin E.R., Scott W.K., Nance M.A., Watts R.L., Hubble J.P., Haines J.L., Koller W.C., Lyons K., Pahwa R., Stern M.B., Colcher A., Hiner B.C., Jankovic J., Ondo W.G., Allen Jr. F.H., Goetz C.G., Small G.W., Mastaglia F., Stajich J.M., McLaurin A.C., Middleton L.T., Scott B.L., Schmechel D.E., Pericak-Vance M.A., and Vance J.M. Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease. Am. J. Hum. Genet. 72 (2003) 804-811
31. Wallace D.C. The mitochondrial genome in human adaptive radiation and disease: on the road to therapeutics and performance enhancement. Gene 354 (2005) 169-180
32. Yoshida Y., Izumi H., Ise T., Uramoto H., Torigoe T., Ishiguchi H., Murakami T., Tanabe M., Nakayama Y., Itoh H., Kasai H., and Kohno K. Human mitochondrial transcription factor A binds preferentially to oxidatively damaged DNA. Biochem. Biophys. Res. Commun. 295 (2002) 945-951