Abstract
Multiple sclerosis (MS) is an encumbering inflammatory condition of the central nervous system (CNS) caused by axonal demyelination. There is sufficient evidence suggesting role of eukaryotic translation initiation factor 2B (EIF2B) gene family encoding the five subunits of eIF2B complex-α, β, γ, δ and ε respectively, in causing vanishing white matter (VWM) disease of the brain. Incidentally researchers have proposed overlapping between MS and VWM in terms of clinical, biochemical and genetic aspects, which incited us to write this chapter to explore the association between EIF2B5 and MS. eIF2B plays an essential role in translation initiation and its regulation in eukaryotes. Among EIF2B gene family, EIF2B5 gene encodes the catalytic and a crucial epsilon subunit of the eIF2B protein as most of the alterations have been found in this gene. The recent findings on the association between EIF2B5 and MS susceptibility point towards unfathomable and contentious role of EIF2B5 in MS development. This chapter briefly reviews the insights gleaned from recent studies conducted in understanding the association between EIF2B5 and MS risk. The need of hour is to conduct large scale conclusive studies aimed at expounding the mechanisms behind this relationship.
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Abbreviations
- CD45:
-
protein tyrosine phosphatase receptor type C
- CNS:
-
central nervous system
- CYP27B1:
-
cytochrome P450 family 27 subfamily B member 1
- ε:
-
epsilon
- eIF2:
-
eukaryotic translation initiation factor 2
- eIF2B:
-
eukaryotic translation initiation factor 2B
- EIF2B5:
-
gene
- eIF2B:
-
protein
- GTP:
-
guanosine triphosphate
- HIV:
-
human immunodeficiency virus
- HLA:
-
human leukocyte antigen
- HSP:
-
heat shock proteins
- IL6:
-
interleukin 6
- IL-7R:
-
interleukin 7 receptor
- MS:
-
multiple sclerosis
- MSIF:
-
multiple sclerosis international federation
- OMIM:
-
online mendelian inheritance in man
- PP:
-
primary progressive
- PR:
-
primary relapsing
- RR:
-
relapsing-remitting
- SNP:
-
single nucleotide polymorphism
- SP:
-
secondary progressive
- VWM:
-
vanishing white matter
- WHO:
-
world health organization
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Acknowledgements
The authors thank the Department of Science and Technology (DST), Govt. of India, New Delhi, for providing grants to the Principal Investigator, Dr. Insha Zahoor, under the Women Scientist Scheme-A (WOS-A) project on Multiple Sclerosis vide Order No.: SR/WOS-A/LS-72/2013(G).
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Zahoor, I., Haq, E., Asimi, R. (2017). Multiple Sclerosis and EIF2B5: A Paradox or a Missing Link. In: Asea, A., Geraci, F., Kaur, P. (eds) Multiple Sclerosis: Bench to Bedside. Advances in Experimental Medicine and Biology, vol 958. Springer, Cham. https://doi.org/10.1007/978-3-319-47861-6_5
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