TITLE:
Ile587Val Polymorphism of the eIF2B5 Gene as Susceptibility Factor for Multiple Sclerosis
AUTHORS:
Carmine Ungaro, Francesca L. Conforti, Maria Trojano, Ida Manna, Virginia Andreoli, Francesca Condino, Paola Valentino, Antonio Gambardella, Aldo Quattrone, Rosalucia Mazzei
KEYWORDS:
Multiple Sclerosis; Vanishing White Matter Disease; eIF2B gene; Stress-sensitive neurological disorders.
JOURNAL NAME:
Neuroscience and Medicine,
Vol.2 No.2,
June
29,
2011
ABSTRACT: Mutations in the eIF2B gene cause the VWM disease. Genetic and biochemical data of MS patient and MRI data showing VWM images similar to MS lesions, encouraged the present study in which we analyzed the eIF2B5 gene in 225 unrelated MS patients to evaluate an overlapping between MS and VWM. A common variation Ile587Val was found very frequent in the MS patients respect normal controls, thus suggesting that Ile587Val should be considered as susceptibility factor in the development of MS. In conclusion, our data strongly highlight a possible involvement of the eIF2B5 in the development of MS.