Mitochondrial D-Loop Variation in Persian Multiple Sclerosis Patients: K and A Haplogroups as a Risk Factor!! |
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Authors: | Hassan Hassani- Kumleh Massoud Houshmand Mehdi Shafa Shariat Panahi Gholam Hossein Riazi Mohammad Hossein Sanati Kurosh Gharagozli Mojdeh Ghabaee |
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Affiliation: | (1) Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology (NIGEB), P.O. Box 14155-6343, Tehran, Iran;(2) Institute of Biochemistry and Biophysics, University of Tehran, Tehran, Iran;(3) Department of Medical Genetics, National Institute for Genetic Engineering and Biotechnology (NIGEB), Tehran, Iran;(4) Department of Neurology, Loghman Hospital, Tehran, Iran;(5) Imam Khomeini Hospital, Tehran University of Medical Sciences, Tehran, Iran |
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Abstract: | Multiple Sclerosis (MS) is a multifocal demyelinating central nervous system disorder in which interplay between genes and the environment are supposed to be involved. Mitochondrial DNA (mtDNA) has the only non-coding regions at the displacement loop (D-loop) region that contains two hypervariable segments (HVS-I and HVS-II) with high polymorphism. mtDNA has already been fully sequenced and many subsequent publications have showed polymorphic sites, haplogroups and haplotypes. Haplogroups could have important implications to understand association between mutability of the mitochondrial genome and disease. To assess relationship between mtDNA haplogroups and MS, we have sequenced the mtDNA HVS-I in 54 MS patients and 100 control subjects. We have found that haplogroups A and K are significantly more abundant in MS patients (P=0.042 for haplogroup A and P=0.0005 for haplogroup K). Thus, these two haplogroups might act synergistically to increase the penetrance of MS disease. |
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Keywords: | mitochondrial DNA haplogroup multiple sclerosis |
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