In the actual scenario of the search for further genetic susceptibility factors, a recent paper noted an SNP in the UCP2 gene as a multiple sclerosis (MS) risk factor. UCP2 is a member of the mitochondrial proton transport family, which uncouples proton entry in the mitochondrial matrix from ATP synthesis. mtDNA haplogroups are also associated with ATP production, and are linked with mitochondrial proton transport. In this work, we studied the UCP2 SNP and the mitochondrial haplogroups distribution in a Spanish MS population, with a population sub-group of Basque-origin patients. Our results confirm the link between UCP2 SNP and MS, and show a slight relation between this SNP and mitochondrial haplogroups. Multiple Sclerosis 2007; 13: 454-458. http://msj.sagepub.com
Hauser SL , Goodin D.Multiple sclerosis and other demyelinating diseases. In Braunwald eds. Harrison's principles in internal medicine. McGraw Hill , 2005: 2461-71.
2.
Oksenberg JR , Baranzini SE , Barcellos LF , Hauser SLMultiple sclerosis: genomic rewards . J Neuroimmunol2001; 113: 171-84 .
3.
Haskin Fernald G , Ru-Fang Y. , Hauser SL , Oksenberg J. , Baranzini SEMapping gene activity in complex disorders: integration ofl expression and genomic scans flor multiple sclerosis . J Neuroimmunol2005; 167: 157-59 .
4.
Baranzini SE , Oksenberg JRGenomics and new targets flor multiple sclerosis . Pharmacogenomics2005; 6: 151-61 .
5.
Butterfield RJ , Blankenhorn EP , Roper RJ , Zachary JF , Doerge RW , Teuscher C.Identification ofl genetic loci controlling the characteristics and severity ofl brain and spinal cord lesions in experimental allergic encephalomyelitis . Am J Pathol2000 ; 157: 637-45 .
6.
Vogler S. , Goedde R. , Miterski B. , Gold R. , Kroner A. , Koczan D.et al.Association ofl a common polymorphism in the promoter ofl UCP2 with susceptibility to multiple sclerosis . J Mol Med2005; 83: 806-11 .
7.
Esterbauer H. , Schneitler C. , Oberkofler H. , Ebenbichler C. , Paulweber B. , Sandhofer F. et al. A common polymorphism in the promoter ofl UCP2 is associated with decreased risk ofl obesity in middle-aged humans . Nat Genet2001; 28: 178-83 .
8.
Sasahara M. , Nishi M. , Kawashima H. , Ueda K. , Sakagashira S. , Furuta H. et al. Uncoupling protein 2 promoter polymorphism -866G/A aflflects its expression in beta-cells and modulates clinical profiles ofl Japanese type 2 diabetic patients . Diabetes2004; 53: 482-85 .
9.
Ruiz-Pesini E. , Lapena AC , Diez-Sanchez C. , Perez-Martos A. , Montoya J. , Alvarez E.et al.Human mtDNA haplogroups associated with high or reduced spermatozoa motility . Am J Hum Genet2000; 67: 682-96 .
10.
Reynier P. , Penisson-Besnier I. , Moreau C. , Savagner F. , Vielle B. , Emile J.et al.mtDNA haplogroup J: a contributing flactor ofl optic neuritis . Eur J Hum Genet1999; 7: 404-46 .
11.
Otaegui D. , Saenz A. , Martinez-Zabaleta M. , Villoslada P. , Fernandez-Manchola I. , Alvarez DA et al. Mitochondrial haplogroups in Basque multiple sclerosis patients . Mult Scler2004; 10: 532-35 .
12.
Rodríguez-Antiguedad AREsclerosis múltiple, análisis clínico retrospectivo y prospectivo de una serie hospitalaria de base poblacional. UPV/EHU, 1999.
13.
Mallada-Frechin J.Epidemiología descriptiva de la esclerosis múltiple en España . Cuadernos de Esclerosis Múltiple2003; 16: 1-15 .
14.
Instituto Nacional de Estadística (INE) (España). 2005, www.ini.es
15.
McDonald W. , Compston A. , Edan G. , Goodkin DE , Hartung HP , Lublin FD et al. Recommended diagnostic criteria flor multiple sclerosis: guidelines flrom the International Panel ofl the diagnosis ofl multiple sclerosis . Ann Neurol2001; 50: 121-27 .
16.
Kurtzke JFRating neurologic impairment in multiple sclerosis. An Expanded Disability Status Scale (EDSS) . Neurology1983; 33: 144-52 .
17.
Roxburgh RH , Seaman SR , Masterman T. , Hensiek AE , Sawcer SJ , Vukusic S. et al. MultipleSclerosis Severity Score: using disability and disease duration to rate disease severity . Neurology2005; 64: 1144-51 .
18.
Ruiz-Pesini E. , Lapena AC , Diez-Sanchez C. , PerezMartos A. , Montoya J. , Alvarez E. et al. Human mtDNA haplogroups associated with high or reduced spermatozoa motility . Am J Hum Genet2000; 67: 682-96 .
19.
Calafell F. , Bertranpetit J.Principal component analysis ofl gene flrequencies and the origin ofl Basques . Am J Phys Anthropol1994; 93: 201-15 .
20.
Bertranpetit J. , Sala J. , Calafell F. , Underhill PA , Moral P. , Comas D.Human mitochondrial DNA variation and the origin ofl Basques . Ann Hum Genet1995; 59: 63-81 .
21.
Ibrahim SM , Mix E. , Bottcher T. , Koczan D. , Gold R. , Rolfs A. et al. Gene expression profiling ofl the nervous system in murine experimental autoimmune encephalomyelitis . Brain2001; 124: 1927-38 .
22.
Horvath TL , Diano S. , Barnstable C.Mitochondrial uncoupling protein 2 in the central nervous system: neuromodulator and neuroprotector . Biochem Pharmacol2003 ; 65: 1917-21 .
23.
Diano S. , Matthews RT , Patrylo P. , Yang L. , Beal MF , Barnstable CJ et al. Uncoupling protein 2 prevents neuronal death including that occurring during seizures: a mechanism flor preconditioning . Endocrinology2003; 144: 5014-21 .
24.
Vogler S. , Pahnke J. , Rousset S. , Ricquier D. , Moch H. , Miroux B. et al. Uncoupling protein 2 has protective flunction during experimental autoimmune encephalomyelitis . Am J Pathol2006; 168: 1570-75 .
25.
Ruiz-Pesini E. , Lapena AC , Diez-Sanchez C. , PerezMartos A. , Montoya J. , Alvarez E. et al. Human mtDNA haplogroups associated with high or reduced spermatozoa motility . Am J Hum Genet2000; 67: 682-96 .
