Mitochondrial DNA G13708A variation and multiple sclerosis: Is there an association?
BACKGROUND
Multiple sclerosis (MS) is considered a pathogenetic enigma. Recently, efforts to implicate genetics in human susceptibility to MS have identified an important role of mitochondrial DNA (mtDNA). G13708A is a common mtDNA variation associated with MS in specific populations. This study tested the hypothesis that the mtDNA G13708A variation is associated with MS in an Iranian population.


METHODS
Blood samples were collected from 100 MS patients and 100 unrelated healthy controls. DNA was extracted using a salting-out method, followed by polymerase chain reaction (PCR) amplification. For assessment of restriction fragment length polymorphism (RFLP), PCR products were restricted by restriction enzyme Mva I. Thereafter, the restriction products were assessed by means of an ultraviolet (UV) transilluminator following electrophoresis with 3% agarose gel. Accuracy of the genotyping procedure was assessed by direct sequencing.


RESULTS
The mtDNA G13708A variation was found in 17 cases (17%) and 19 controls (19%) (P=0.7, OR: 0.8, 95% CI: 0.3-1.9).


CONCLUSIONS
The findings of the present study fail to support the hypothesis that the G13708A mtDNA variation is associated with MS in the selected Iranian population.
Neuroscience Research Center, Department of Neurosurgery, Poursina Hospital, School of Medicine, Guilan University of Medical Sciences, Rasht, Iran. Electronic address: andalib@gums.ac.ir.
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Andalib
Neurosciences Research Center, Department of Neurology, School of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
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Talebi
Division of Medical Genetics, School of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran; Division of Regenerative Medicine, School of Medicine, Faculty of Medical and Human Sciences, the University of Manchester, Manchester, UK.
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Sakhinia
Neurosciences Research Center, Department of Neurology, School of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran.
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Farhoudi
Department of Statistics and Epidemiology, School of Health, Tabriz University of Medical Sciences, Tabriz, Iran; Department of Public Health Sciences, Karolina Institute, Stockholm, Sweden.
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Sadeghi-Bazargani
Brachial Plexus and Peripheral Nerve Injury Center, Guilan University of Medical Sciences, Rasht, Iran.
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Emamhadi
Neurology Ward, Department of Internal Medicine, Kosar Hospital, School of Medicine, Semnan University of Medical Sciences, Semnan, Iran.
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Masoodian
Department of Cardiology, Shahid Modarres Hospital, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
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Balaghi-Inalou
Neurosciences Research Center, Department of Neurology, School of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran; Department of Psychiatry, University of Southern Denmark & Department of Nuclear Medicine, Odense University Hospital, Odense, Denmark.
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Vafaee
Department of Neuroscience and Pharmacology, University of Copenhagen, Copenhagen, Denmark.
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Gjedde
D016022:Case-Control Studies; D004272:DNA, Mitochondrial / Q000235:genetics*; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007492:Iran / Q000453:epidemiology; D009103:Multiple Sclerosis / Q000453:epidemiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide
D004272:DNA, Mitochondrial
G13708A; Iranian population; Mitochondrial DNA; Multiple sclerosis; mtDNA variation