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Population screening for association of mitochondrial haplogroups BM, J, K and M with multiple sclerosis: interrelation between haplogroup J and MS in Persian patients

Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran, massoudh{at}nrcgeb.ac.ir

M H Sanati

Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran

F Babrzadeh

Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran

A Ardalan

Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran

M Teimori

Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran

M Vakilian

Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran

M Akuchekian

Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology, Tehran, Iran

D Farhud

Department of Human Genetics, Faculty of Health, Tehran University of Medical Sciences, Tehran, Iran

J Lotfi

Department of Neurology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

Background: Multiple sclerosis (MS) is an immunological inflammatory disease of the central nervous system (CNS) which is chronically observed in young adults. On the basis of earlier studies, potential relatedness between MS and mitochondrial DNA (mtDNA) mutations was postulated. Materials and methods: 246 individuals were screened using the PCR-RFLP method, including 70 MS patients examined for mitochondrial haplogroups BM, J, K and M and 176, 149 and 70 normal controls examined for haplogroups BM and M, J and K, respectively. Results and discussion: Our analysis revealed a relatively high proportion of haplogroup BM in MS patients (26%) compared to normal controls (13%). In addition, a slightly significant increase of MS patients of haplogroup J (20% in MS patients versus 9.39% in normal controls at P-0.049), while haplogroups M and K did not show contribution to MS contingency (2.85 and 2.27%, respectively at P-1.000 in haplogroup M and 12.85 and 7.14% respectively at P-0.399 in haplogroup K).

Key Words: haplogroup J • haplogroup K • mitochondrial DNA • multiple sclerosis • optic nerve atrophy • point mutation

Multiple Sclerosis, Vol. 11, No. 6, 728-730 (2005)
DOI: 10.1191/1352458505ms1228sr


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