Association of common mitochondrial DNA variants with multiple sclerosis and systemic lupus erythematosus

Clinical Immunology

Volumn 129, Issue 1, 2008, Pages 31-35

  Vyshkina, Tamara ^a   Sylvester, Andrew ^b   Sadiq, Saud ^b   Bonilla, Eduardo ^c   Canter, Jeff A ^d   Perl, Andras ^c   Kalman, Bernadette ^a,c  

^a SYRACUSE VA MEDICAL CENTER   (United States)

^b Multiple Sclerosis Research Center of New York Inc   (United States)

^c State University of New York Upstate Medical University: College of Medicine   (United States)

^d VANDERBILT UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Candidate genes; ; Mitochondrial genes; Multiple sclerosis; ; Systemic lupus erythematosus;

Indexed keywords

MITOCHONDRIAL DNA;

ADULT; ARTICLE; AUTOIMMUNE DISEASE; CONTROLLED STUDY; ENERGY METABOLISM; FEMALE; GENE LOCATION; GENETIC VARIABILITY; HAPLOTYPE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MITOCHONDRIAL GENETICS; MULTIPLE SCLEROSIS; PRIORITY JOURNAL; SYSTEMIC LUPUS ERYTHEMATOSUS;

ADULT; ALLELES; BIOLOGICAL MARKERS; DNA, MITOCHONDRIAL; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MALE; MIDDLE AGED; MITOCHONDRIA; MITOCHONDRIAL PROTON-TRANSLOCATING ATPASES; MULTIPLE SCLEROSIS; NADH DEHYDROGENASE; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 51249092582     PISSN: 15216616     EISSN: 15217035     Source Type: Journal    
DOI: 10.1016/j.clim.2008.07.011     Document Type: Article

References (27)

1. Gergely P.J., Grossman C., Niland B., Puskas F., Neupane H., Allam F., Banki K., Phillips P.E., and Perl A. Mitochondrial hyperpolarization and ATP depletion in patients with systemic lupus erythematosus. Arth. Rheum. 46 (2002) 175-190
2. Perl A., Gergely, Jr. P., Nagy G., Koncz A., and Banki K. Mitochondrial hyperpolarization: a checkpoint of T cell life, death, and autoimmunity. Trends Immunol. 25 (2004) 360-367
3. 2+ fluxing, mitochondrial electron transport, and antioxidant pathway genes in peripheral blood lymphocytes of patients with systemic lupus erythematosus. Arth. Rheum. 52 (2005) S617
4. Hanefeld F.A., Ernst B.P., Wilichowski E., and Christen H.J. Leber's hereditary optic neuropathy mitochondrial DNA mutations in childhood multiple sclerosis. Neuropediatrics 25 (1994) 331
5. Kalman B., Lublin F.D., and Alder H. Characterization of the mitochondrial DNA in patients with multiple sclerosis. J. Neurol. Sci. 140 (1996) 75-84
6. Kalman B., Li S., Chatterjee D., O'Connor J., Voehl M.R., Brown M.D., and Alder H. Large scale screening of the mitochondrial DNA reveals no pathogenic mutations but a haplotype associated with multiple sclerosis in Caucasians. Acta Neurol. Scand. 99 (1999) 16-25
7. Mayr-Wohlfart U., Paulus C., Henneberg A., and Rodel G. Mitochondrial DNA mutations in multiple sclerosis patients with severe optic involvement. Acta Neurol. Scand. 94 (1996) 167-171
8. Lu F., Selak M., O'Connor J., Croul S., Butunoi C., and Kalman B. Oxidative damage to mitochondrial DNA and activity of mitochondrial enzymes in lesions of multiple sclerosis. J. Neurol. Sci. 177 (2000) 95-103
9. Vyshkina T., Banisor I., Shugart Y.Y., Leist T.P., and Kalman B. Genetic variants of Complex I in multiple sclerosis. J. Neurol. Sci. 228 (2005) 55-64
10. McDonald W.I., Compston A., Edan G., Goodkin D., Hartung H.P., Lublin F.D., McFarland H.F., Paty D.W., Polman C.H., Reingold S.C., Sandberg-Wollheim M., Sibley W., Thompson A., van den Noort S., Weinshenker B.Y., and Wolinsky J.S. Recommended diagnostic criteria for multiple sclerosis: guidelines from the international panel on the diagnosis of multiple sclerosis. Ann. Neurol. 50 (2001) 121-127
11. Tan E.M., Cohen A.S., Fries J.F., Masi A.T., McShane D.J., Rothfield N.F., Schaller J.G., Talal N., and Winchester R.J. The 1982 revised criteria for the classification of systemic lupus erythematosus. Arth. Rheum. 25 (1982) 1271-1277
12. Vyshkina T., Sylvester A., Sadiq S., Bonita E., Perl A., and Kalman B. Candidate genes in multiple sclerosis and lupus erythematosus. J. Neuroimmunol. (2008) July 2. Epub ahead of print
13. Lucchinetti C., Brück W., Parisi J., Scheithauer B., Rodriguez M., and Lassmann H. Heterogeneity of multiple sclerosis lesions: implications for the pathogenesis of demyelination. Ann. of Neurol. 47 (2000) 707-717
14. Bielekova B., Kadom N., Fisher E., Jeffries N., Ohayon J., Richert N., Howard T., Bash C.N., Frank J.A., Stone L., Martin R., Cutter G., and McFarland H.F. MRI as a marker for disease heterogeneity in multiple sclerosis. Neurology 65 (2005) 1071-1076
15. Zivadinov R., and Bakshi R. Central nervous system atrophy and clinical status in multiple sclerosis. J. Neuroimaging 14 3 Suppl (2004) 27S-35S
16. Harding A.E., Sweeney M.G., Miller D.H., Mumford C.J., Kellar-Wood H., Menard D., McDonald W.I., and Compston D.A. Occurrence of a multiple sclerosis-like illness in women who have a Leber's hereditary optic neuropathy mitochondrial DNA mutation. Brain 115 (1992) 979-989
17. Kalman B. Role of mitochondria in multiple sclerosis. Curr. Neurol. Neurosci. Rep. 6 (2006) 244-252
18. Purcell S., Cherny S.S., and Sham P.C. Genetic Power Calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 19 (2003) 149-150
19. International Multiple Sclerosis Genetics Consortium. Hafler D.A., Compston A., Sawcer S., Lander E.S., Daly M.J., De Jager P.L., de Bakker P.I., Gabriel S.B., Mirel D.B., Ivinson A.J., Pericak-Vance M.A., Gregory S.G., Rioux J.D., McCauley J.L., Haines J.L., Barcellos L.F., Cree B., Oksenberg J.R., and Hauser S.L. Risk alleles for multiple sclerosis identified by a genomewide study. N. Engl. J. Med. 357 (2007) 851-862
20. Torroni A., Huoponen K., Francalacci P., Petrozzi M., Morelli L., Scozzari R., Obinu D., Savontaus M.L., and Wallace D.C. Classification of European mtDNAs from an analysis of three European populations. Genetics 144 (1996) 1835-1850
21. 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) 223-236
22. Dutta R., McDonough J., Yin X., Peterson J., Chang A., Torres T., Gudz T., Macklin W.B., Lewis D.A., Fox R.J., Rudick R., Mirnics K., and Trapp B.D. Mitochondrial dysfunction as a cause of axonal degeneration in multiple sclerosis patients. Ann. Neurol. 59 (2006) 478-489
23. Gergely P.J., Niland B., Gonchoroff N., Pullmann, Jr. R., Phillips P.E., and Perl A. Persistent mitochondrial hyperpolarization, increased reactive oxygen intermediate production, and cytoplasmic alkalinization characterize altered IL-10 signaling in patients with systemic lupus erythematosus. J. Immunol. 169 (2002) 1092-1101
24. Nagy G., Barcza M., Gonchoroff N., Phillips P.E., and Perl A. Nitric oxide-dependent mitochondrial biogenesis generates Ca2+ signaling profile of lupus T cells. J. Immunol. 173 (2004) 3676-3683
25. McCombe P.A., Chalk J.B., and Pender M.P. Familial occurrence of multiple sclerosis with thyroid disease and systemic lupus erythematosus. J. Neurol. Sci. 97 (1990) 163-171
26. Corporaal S., Bijl M., and Kallenberg C.G. Familial occurrence of autoimmune diseases and autoantibodies in a Caucasian population of patients with systemic lupus erythematosus. Clin. Rheumatol. 21 (2002) 108-113
27. Criswell L.A., Pfeiffer K.A., Lum R.F., Gonzales B., Novitzke J., Kern M., Moser K.L., Begovich A.B., Carlton V.E., Li W., Lee A.T., Ortmann W., Behrens T.W., and Gregersen P.K. Analysis of families in the multiple autoimmune disease genetics consortium (MADGC) collection: the PTPN22 620W allele associates with multiple autoimmune phenotypes. Am. J. Hum. Genet. 76 (2005) 561-571