Mutations in the genes encoding eukaryotic translation initiation factor 2B in Japanese patients with vanishing white matter disease

2015 ◽  
Vol 37 (10) ◽  
pp. 960-966 ◽  
Author(s):  
Shino Shimada ◽  
Keiko Shimojima ◽  
Noriko Sangu ◽  
Ai Hoshino ◽  
Yasuo Hachiya ◽  
...  
Keyword(s):  
Translation Initiation ◽  
Japanese Patients ◽  
Translation Initiation Factor ◽  
Initiation Factor ◽  
White Matter Disease ◽  
Eukaryotic Translation ◽  
Genes Encoding ◽  
Eukaryotic Translation Initiation ◽  
Vanishing White Matter Disease ◽  
Vanishing White Matter

scholarly journals A case report of leukoencephalopathy with vanishing white matter disease

2020 ◽  
Vol 7 (6) ◽  
pp. 1438
Author(s):  
Bommidi Navya ◽  
Vamshi Krishna Kondle ◽  
Komal Uppal
Keyword(s):  
White Matter ◽  
Specific Treatment ◽  
Translation Initiation Factor ◽  
Initiation Factor ◽  
White Matter Disease ◽  
Eukaryotic Translation ◽  
Genes Encoding ◽  
Eukaryotic Translation Initiation ◽  
Vanishing White Matter Disease ◽  
Vanishing White Matter

Vanishing white matter disease (VWM) is one of the most prevalent inherited childhood leucoencephalopathies. Childhood ataxia and diffuse central nervous system hypomyelination are the common findings. The disease is characterized by chronic progressive and episodic deterioration with ataxia, spasticity and optic atrophy. VWM is caused by mutation in any of the five genes encoding the subunits of eukaryotic translation initiation factor eIF2B. The disease has an autosomal recessive mode of inheritance. The cause of the disease is unknown. Authors are reporting an 8 year old male child presented with complaint of difficulty while walking since one month and history viral fever was present one month back. MRI revealed bilateral symmetrical periventricular T2 hyperintensities with T1 hypointensities. Perivenular sparing was seen and molecular analysis shown eIF2B4 mutations confirmation of vanishing white matter disease. No specific treatment is available and advised to avoid stress and triggers.

scholarly journals Vanishing White Matter Disease in a Spanish Population

2014 ◽  
Vol 6 ◽  
pp. JCNSD.S13540 ◽  
Author(s):  
Eulàlia Turón-Viñas ◽  
Mercè Pineda ◽  
Victòria Cusí ◽  
Eduardo López-Laso ◽  
Rebeca Losada Del Pozo ◽  
...  
Keyword(s):  
White Matter ◽  
Translation Initiation Factor ◽  
Initiation Factor ◽  
Eukaryotic Translation ◽  
Genes Encoding ◽  
Eukaryotic Translation Initiation ◽  
Severe Ataxia ◽  
Vanishing White Matter Disease ◽  
Chronic Course ◽  
Vanishing White Matter

Vanishing white matter (VWM) leukoencephalopathy is one of the most prevalent hereditary white matter diseases. It has been associated with mutations in genes encoding eukaryotic translation initiation factor ( eIF2B). We have compiled a list of all the patients diagnosed with VWM in Spain; we found 21 children. The first clinical manifestation in all of them was spasticity, with severe ataxia in six patients, hemiparesis in one child, and dystonic movements in another. They suffered from progressive cognitive deterioration and nine of them had epilepsy too. In four children, we observed optic atrophy and three also had progressive macrocephaly, which is not common in VWM disease. The first two cases were diagnosed before the 1980s. Therefore, they were diagnosed by necropsy studies. The last 16 patients were diagnosed according to genetics: we found mutations in the genes eIF2B5 (13 cases), eIF2B3 (2 cases), and eIF2B4 (1 case). In our report, the second mutation in frequency was c.318A>T; patients with this mutation all followed a slow chronic course, both in homozygous and heterozygous states. Previously, there were no other reports to confirm this fact. We also found some mutations not described in previous reports: c.1090C>T in eIF2B4, c.314A>G in eIF2B5, and c.877C>T in eIF2B5.

eIF2B: recent structural and functional insights into a key regulator of translation

2015 ◽  
Vol 43 (6) ◽  
pp. 1234-1240 ◽  
Author(s):  
Noel C. Wortham ◽  
Christopher G. Proud
Keyword(s):  
Translation Initiation ◽  
Translational Regulation ◽  
Mrna Translation ◽  
Translation Initiation Factor ◽  
Initiation Factor ◽  
Structural Studies ◽  
Eukaryotic Translation ◽  
Eukaryotic Translation Initiation ◽  
Subunit Organization ◽  
Vanishing White Matter

The eukaryotic translation initiation factor (eIF) eIF2B is a key regulator of mRNA translation, being the guanine nt exchange factor (GEF) responsible for the recycling of the heterotrimeric G-protein, eIF2, which is required to allow translation initiation to occur. Unusually for a GEF, eIF2B is a multi-subunit protein, comprising five different subunits termed α through ε in order of increasing size. eIF2B is subject to tight regulation in the cell and may also serve additional functions. Here we review recent insights into the subunit organization of the mammalian eIF2B complex, gained both from structural studies of the complex and from studies of mutations of eIF2B that result in the neurological disorder leukoencephalopathy with vanishing white matter (VWM). We will also discuss recent data from yeast demonstrating a novel function of the eIF2B complex key for translational regulation.

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