Highlights
- •MS is considered as a chronic inflammatory disease of the central nervous system.
- •The both nuclear and mitochondrial genes are involved in MS development.
- •The mtDNA of complex I gene variations are involved in the progression of MS.
- •Relationship between mitochondrial complex I gene variations and MS.
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
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Article info
Publication history
Published online: July 28, 2014
Accepted:
July 21,
2014
Received in revised form:
July 20,
2014
Received:
April 30,
2014
Identification
Copyright
© 2014 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
