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J Neurol Sci. 2014 Oct 15;345(1-2):220-3. doi: 10.1016/j.jns.2014.07.051. Epub 2014 Jul 28.

Mitochondrial complex I gene variations; as a potential genetic risk factor in pathogenesis of multiple sclerosis.

Author information

1
Biotechnology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
2
Young Researchers and Elite Club, Ahar Branch, Islamic Azad University, Ahar, Iran.
3
Department of Molecular Genetics, Faculty of Basic Sciences, Tarbiat Modarres University, Tehran, Iran.
4
Department of Genetics and Medical Biotechnology, Faculty of Medicine, Hormozgan University of Medical Sciences, Bandar Abbas, Iran.
5
De La Salle Health Science Institute, College of Medicine, Cavite, Philippines. Electronic address: Aliazadi62@gmail.com.

Abstract

BACKGROUND AND PURPOSE:

Multiple sclerosis (MS) is an autoimmune-mediated inflammatory and debilitating disease of the central nervous system. Several investigations have suggested that the mitochondrial DNA encoded subunits of complex I gene variations are involved in the progression of MS. In this study, we investigated the possible association between mitochondrial complex I gene variations and MS in a Filipino population.

MATERIAL AND METHODS:

A total of 300 individuals were included in the present study, two-hundred patients with MS clinical symptoms, and one-hundred healthy subjects without MS clinical features. We amplified target genes of mtDNA using polymerase chain reaction technique (PCR), and sequenced these to evaluate mitochondrial complex I gene variations.

RESULTS:

We found nine variations (Nt 4216 T>C, Nt 5153 A>G, Nt 10142 C>T, Nt 11353 T>C, Nt 11935 T>C, Nt 12062 C>T, Nt 13042 G>A, Nt 13708 G>A and Nt 14179 G>A) in mtDNA-encoded complex I subunit genes. Our results showed that the prevalence of ND1, ND2, ND3, ND4 and ND5 gene variations was significantly higher in patients than in healthy controls (P<0.0001). Whereas, the frequency of Nt 14179 G>A variation in ND6 gene was significantly higher in the control group compared with the patients (P<0.0001).

CONCLUSION:

Taken together our data supports a strongly positive association between mitochondrial complex I gene variations and MS pathogenesis in a Filipino population.

KEYWORDS:

Complex I genes; Mitochondrial DNA variations; Multiple sclerosis; mtDNA

PMID:
25172194
DOI:
10.1016/j.jns.2014.07.051
[Indexed for MEDLINE]

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