Mitochondrial DNA T4216C and A4917G variations in multiple sclerosis

Sasan Andalib, Mahnaz Talebi, Ebrahim Sakhinia, Mehdi Farhoudi, Homayoun Sadeghi-Bazargani, Albert Gjedde

Research output: Contribution to journalArticle

Abstract

Abstract Background Multiple sclerosis (MS) affects the brain and spinal cord and long has been the topic of global research; yet there is no commonly accepted cause and no cure for the disease. Mounting evidence supports the role of genetics in susceptibility to MS. From this perspective, a current effort focuses on the neurogenetics of the complex pathogenesis of MS in relation to factors such as mitochondrial DNA (mtDNA) variations. T4216C and A4917G are common mitochondrial gene variations associated with MS. The present study tested whether mtDNA T4216C variation in the NADH Dehydrogenase 1 (ND1) mtDNA gene and A4917G variation in the mtDNA NADH Dehydrogenase 2 (ND2) gene are associated with MS in an Iranian population. Material and methods Blood samples were collected from 100 patients with MS and 100 unrelated healthy controls, and DNA extraction was performed by salting-out. By means of appropriate primers, polymerase chain reaction (PCR) amplification was carried out for the mtDNA fragment. Afterwards, the PCR products were digested using Nla III and Acc I restriction endonuclease enzymes for analysis of Restriction Fragment Length polymorphism (RFLP) in mtDNA T4216C and A4917G variations, respectively. With electrophoresis by means of 3% agarose gel and safe DNA gel stain, we imaged restriction products in a UV transilluminator. The accuracy of genotyping procedure was confirmed by sequencing the mtDNA fragment. Results No significant statistical difference in the frequency of the T4216C mtDNA variation was found between the patients (24%) and the control subjects (21%) (P = 0.61). Logistic regression analysis showed an OR of 1.1 (95% CI = 0.5-2.4). Moreover, there was no significant statistical difference in the frequency of mtDNA A4917G variation between the cases (11%) and the controls (9%) (P = 0.637). Logistic regression analysis revealed an odds ratio (OR) of 1.2 with 95% CI of 0.4-3.5. Conclusion The present study revealed no association between MS and T4216C variation in the ND1 mtDNA gene and A4917G variation in the mtDNA ND2 gene in the Iranian population.

Original languageEnglish (US)
Article number13779
Pages (from-to)55-60
Number of pages6
JournalJournal of the Neurological Sciences
Volume356
Issue number1-2
DOIs
StatePublished - Sep 15 2015
Externally publishedYes

Fingerprint

Mitochondrial DNA
Multiple Sclerosis
NADH Dehydrogenase
Mitochondrial Genes
Logistic Models
Gels
Odds Ratio
Regression Analysis
Polymerase Chain Reaction
Restriction Mapping
DNA
DNA Restriction Enzymes
Genetic Predisposition to Disease
Restriction Fragment Length Polymorphisms
Sepharose
Population
Genes
Electrophoresis
Spinal Cord
Coloring Agents

Keywords

  • A4917G
  • Mitochondrial DNA
  • MS
  • mtDNA variation
  • Multiple sclerosis
  • T4216C

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Andalib, S., Talebi, M., Sakhinia, E., Farhoudi, M., Sadeghi-Bazargani, H., & Gjedde, A. (2015). Mitochondrial DNA T4216C and A4917G variations in multiple sclerosis. Journal of the Neurological Sciences, 356(1-2), 55-60. [13779]. https://doi.org/10.1016/j.jns.2015.04.050

Mitochondrial DNA T4216C and A4917G variations in multiple sclerosis. / Andalib, Sasan; Talebi, Mahnaz; Sakhinia, Ebrahim; Farhoudi, Mehdi; Sadeghi-Bazargani, Homayoun; Gjedde, Albert.

In: Journal of the Neurological Sciences, Vol. 356, No. 1-2, 13779, 15.09.2015, p. 55-60.

Research output: Contribution to journalArticle

Andalib, S, Talebi, M, Sakhinia, E, Farhoudi, M, Sadeghi-Bazargani, H & Gjedde, A 2015, 'Mitochondrial DNA T4216C and A4917G variations in multiple sclerosis', Journal of the Neurological Sciences, vol. 356, no. 1-2, 13779, pp. 55-60. https://doi.org/10.1016/j.jns.2015.04.050
Andalib S, Talebi M, Sakhinia E, Farhoudi M, Sadeghi-Bazargani H, Gjedde A. Mitochondrial DNA T4216C and A4917G variations in multiple sclerosis. Journal of the Neurological Sciences. 2015 Sep 15;356(1-2):55-60. 13779. https://doi.org/10.1016/j.jns.2015.04.050
Andalib, Sasan ; Talebi, Mahnaz ; Sakhinia, Ebrahim ; Farhoudi, Mehdi ; Sadeghi-Bazargani, Homayoun ; Gjedde, Albert. / Mitochondrial DNA T4216C and A4917G variations in multiple sclerosis. In: Journal of the Neurological Sciences. 2015 ; Vol. 356, No. 1-2. pp. 55-60.
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title = "Mitochondrial DNA T4216C and A4917G variations in multiple sclerosis",
abstract = "Abstract Background Multiple sclerosis (MS) affects the brain and spinal cord and long has been the topic of global research; yet there is no commonly accepted cause and no cure for the disease. Mounting evidence supports the role of genetics in susceptibility to MS. From this perspective, a current effort focuses on the neurogenetics of the complex pathogenesis of MS in relation to factors such as mitochondrial DNA (mtDNA) variations. T4216C and A4917G are common mitochondrial gene variations associated with MS. The present study tested whether mtDNA T4216C variation in the NADH Dehydrogenase 1 (ND1) mtDNA gene and A4917G variation in the mtDNA NADH Dehydrogenase 2 (ND2) gene are associated with MS in an Iranian population. Material and methods Blood samples were collected from 100 patients with MS and 100 unrelated healthy controls, and DNA extraction was performed by salting-out. By means of appropriate primers, polymerase chain reaction (PCR) amplification was carried out for the mtDNA fragment. Afterwards, the PCR products were digested using Nla III and Acc I restriction endonuclease enzymes for analysis of Restriction Fragment Length polymorphism (RFLP) in mtDNA T4216C and A4917G variations, respectively. With electrophoresis by means of 3{\%} agarose gel and safe DNA gel stain, we imaged restriction products in a UV transilluminator. The accuracy of genotyping procedure was confirmed by sequencing the mtDNA fragment. Results No significant statistical difference in the frequency of the T4216C mtDNA variation was found between the patients (24{\%}) and the control subjects (21{\%}) (P = 0.61). Logistic regression analysis showed an OR of 1.1 (95{\%} CI = 0.5-2.4). Moreover, there was no significant statistical difference in the frequency of mtDNA A4917G variation between the cases (11{\%}) and the controls (9{\%}) (P = 0.637). Logistic regression analysis revealed an odds ratio (OR) of 1.2 with 95{\%} CI of 0.4-3.5. Conclusion The present study revealed no association between MS and T4216C variation in the ND1 mtDNA gene and A4917G variation in the mtDNA ND2 gene in the Iranian population.",
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AU - Sakhinia, Ebrahim

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AU - Sadeghi-Bazargani, Homayoun

AU - Gjedde, Albert

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N2 - Abstract Background Multiple sclerosis (MS) affects the brain and spinal cord and long has been the topic of global research; yet there is no commonly accepted cause and no cure for the disease. Mounting evidence supports the role of genetics in susceptibility to MS. From this perspective, a current effort focuses on the neurogenetics of the complex pathogenesis of MS in relation to factors such as mitochondrial DNA (mtDNA) variations. T4216C and A4917G are common mitochondrial gene variations associated with MS. The present study tested whether mtDNA T4216C variation in the NADH Dehydrogenase 1 (ND1) mtDNA gene and A4917G variation in the mtDNA NADH Dehydrogenase 2 (ND2) gene are associated with MS in an Iranian population. Material and methods Blood samples were collected from 100 patients with MS and 100 unrelated healthy controls, and DNA extraction was performed by salting-out. By means of appropriate primers, polymerase chain reaction (PCR) amplification was carried out for the mtDNA fragment. Afterwards, the PCR products were digested using Nla III and Acc I restriction endonuclease enzymes for analysis of Restriction Fragment Length polymorphism (RFLP) in mtDNA T4216C and A4917G variations, respectively. With electrophoresis by means of 3% agarose gel and safe DNA gel stain, we imaged restriction products in a UV transilluminator. The accuracy of genotyping procedure was confirmed by sequencing the mtDNA fragment. Results No significant statistical difference in the frequency of the T4216C mtDNA variation was found between the patients (24%) and the control subjects (21%) (P = 0.61). Logistic regression analysis showed an OR of 1.1 (95% CI = 0.5-2.4). Moreover, there was no significant statistical difference in the frequency of mtDNA A4917G variation between the cases (11%) and the controls (9%) (P = 0.637). Logistic regression analysis revealed an odds ratio (OR) of 1.2 with 95% CI of 0.4-3.5. Conclusion The present study revealed no association between MS and T4216C variation in the ND1 mtDNA gene and A4917G variation in the mtDNA ND2 gene in the Iranian population.

AB - Abstract Background Multiple sclerosis (MS) affects the brain and spinal cord and long has been the topic of global research; yet there is no commonly accepted cause and no cure for the disease. Mounting evidence supports the role of genetics in susceptibility to MS. From this perspective, a current effort focuses on the neurogenetics of the complex pathogenesis of MS in relation to factors such as mitochondrial DNA (mtDNA) variations. T4216C and A4917G are common mitochondrial gene variations associated with MS. The present study tested whether mtDNA T4216C variation in the NADH Dehydrogenase 1 (ND1) mtDNA gene and A4917G variation in the mtDNA NADH Dehydrogenase 2 (ND2) gene are associated with MS in an Iranian population. Material and methods Blood samples were collected from 100 patients with MS and 100 unrelated healthy controls, and DNA extraction was performed by salting-out. By means of appropriate primers, polymerase chain reaction (PCR) amplification was carried out for the mtDNA fragment. Afterwards, the PCR products were digested using Nla III and Acc I restriction endonuclease enzymes for analysis of Restriction Fragment Length polymorphism (RFLP) in mtDNA T4216C and A4917G variations, respectively. With electrophoresis by means of 3% agarose gel and safe DNA gel stain, we imaged restriction products in a UV transilluminator. The accuracy of genotyping procedure was confirmed by sequencing the mtDNA fragment. Results No significant statistical difference in the frequency of the T4216C mtDNA variation was found between the patients (24%) and the control subjects (21%) (P = 0.61). Logistic regression analysis showed an OR of 1.1 (95% CI = 0.5-2.4). Moreover, there was no significant statistical difference in the frequency of mtDNA A4917G variation between the cases (11%) and the controls (9%) (P = 0.637). Logistic regression analysis revealed an odds ratio (OR) of 1.2 with 95% CI of 0.4-3.5. Conclusion The present study revealed no association between MS and T4216C variation in the ND1 mtDNA gene and A4917G variation in the mtDNA ND2 gene in the Iranian population.

KW - A4917G

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