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Mitochondrial haplogroups in Basque multiple sclerosis patients

Experimental Unit, Hospital Donostia, San Sebastián, Spain, ILUNDAIN Fundazioa, San Sebastián, Spain, uniexpe2{at}chdo.osakidetza.net

A Sáenz

Experimental Unit, Hospital Donostia, San Sebastián, Spain, ILUNDAIN Fundazioa, San Sebastián, Spain

M Martínez-Zabaleta

ILUNDAIN Fundazioa, San Sebastián, Spain, Department of Neurology, Hospital Donostia, San Sebastián, Spain

P Villoslada

Neuroimmunology Laboratory, Universidad de Navarra, Pamplona, Spain

I Fernández-Manchola

Department of Neurology, Hospital Txagorritxu, Vitoria, Spain

A álvarez de Arcaya

Department of Neurology, Hospital Txagorritxu, Vitoria, Spain

J I Emparanza

Department of Epidemiology, Hospital Donostia, San Sebastián, Spain

A López de Munain

ILUNDAIN Fundazioa, San Sebastián, Spain, Department of Neurology, Hospital Donostia, San Sebastián, Spain

Previous studies have suggested that mitochondrial metabolism and/or mitochondrial DNA (mtDNA) could be, in conjunction with other genetic or environmental factors, a risk factor for the development of multiple sclerosis (MS). One of these studies establishes that mitochondrial haplogroup JT is a risk factor for developing the disease, in particular the visual manifestations [optic neuritis (ON)]. Nevertheless, as distribution of these haplogroups varies between populations, the observed association may be due to a slanted sample with no physiopathological value. This hypothesis was checked with MS patients, originals from Basque country (this population has peculiar genetic characteristics) and from other Spanish regions. We concluded that such an association does not exist. By contrast, a decrease could be seen in the frequency of the JT haplogroup in the ON group and in the MS-Basque group. That trend could be a protective effect, which needs to be verified in further investigations.

Key Words: Basque • mitochondrial DNA • mitochondrial haplogroups • multiple sclerosis

Multiple Sclerosis, Vol. 10, No. 5, 532-535 (2004)
DOI: 10.1191/1352458504ms1069oa


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