115-120White matter disease refers to a set of
diseases that affect the white matter of the brain and all of which have
different consequences on brain function. Most of the studies have shown that
it results from the defects during protein synthesis, with the gene defects in
EIF2B1–5, encoding the five subunits of eukaryotic translation initiation
factor 2B (eIF2B) α, β, γ, δ and ε, respectively. eIF2B plays a crucial role in
protein translation and its regulation under different conditions. The previous
studies have shown that mutations in five subunits of eIF2B cause white matter
disease of the brain and thus EIF2B is the main culprit in development of white
matter disease. In this study, the mutational screening of EIF2B5 gene encoding
eIF2Bε was performed for the first time in 12 Kashmiri patients, each having a unique white matter disease
condition. We found two novel missense mutations in
EIF2B5: c.580A>G, p.Thr194Ala and c.611C>T, p.Ala204Val among the
patients with demyelinating disease (multiple sclerosis), but no mutation was
found in other patients. In
conclusion our study suggests involvement of the EIF2B5
gene in MS development, thus suggesting p.Thr194Ala to be a susceptibility
factor for the development of multiple sclerosis.
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