Subunits of the translation initiation factor elF2B are mutant in leukoencephalopathy with vanishing white matter
| Autor: | Dafna Fonds, Allerdien Visser, Gerre Vermeulen, Paula Kersbergen, Sakkubai Naidu, Marjo S. van der Knaap, Carola G.M. van Berkel, Dragosh Mobach, Richard J.L.F. Lemmers, Andrea A.M. Könst, Rune R. Frants, Ruud B.H. Schutgens, Jan C. Pronk, Peter A. J. Leegwater, Cees B.M. Oudejans, Joyce Mulders |
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| Přispěvatelé: | Laboratory Medicine, Pediatric surgery, ACS - Atherosclerosis & ischemic syndromes, Amsterdam Reproduction & Development (AR&D), Amsterdam Neuroscience - Cellular & Molecular Mechanisms |
| Jazyk: | angličtina |
| Rok vydání: | 2001 |
| Předmět: |
Chromosomes
Human Pair 14 Genetics Brain Diseases Base Sequence biology Molecular Sequence Data Mutant Translation (biology) medicine.disease Virology Eukaryotic Initiation Factor-2B Eukaryotic translation Leukoencephalopathy with vanishing white matter Protein Biosynthesis eIF2B medicine biology.protein Humans Initiation factor Missense mutation Chromosomes Human Pair 3 Translation factor |
| Zdroj: | Leegwater, P A J, Vermeulen, G, Könst, A A M, Naidu, S, Mulders, J, Visser, A, Kersbergen, P, Mobach, D, Fonds, D, Van Berkel, C G M, Lemmers, R J L F, Frants, R R, Oudejans, C B M, Schutgens, R B H, Pronk, J C & Van der Knaap, M S 2001, ' Subunits of the translation initiation factor elF2B are mutant in leukoencephalopathy with vanishing white matter ', Nature Genetics, vol. 29, no. 4, pp. 383-388 . https://doi.org/10.1038/ng764 Nature Genetics, 29(4), 383-388. Nature Publishing Group |
| ISSN: | 1061-4036 |
| DOI: | 10.1038/ng764 |
| Popis: | Leukoencephalopathy with vanishing white matter (VWM) is an inherited brain disease that occurs mainly in children. The course is chronic-progressive with additional episodes of rapid deterioration following febrile infection or minor head trauma. We have identified mutations in EIF2B5 and EIF2B2, encoding the epsilon- and beta-subunits of the translation initiation factor eIF2B and located on chromosomes 3q27 and 14q24, respectively, as causing VWM. We found 16 different mutations in EIF2B5 in 29 patients from 23 families. We also found two distantly related individuals who were homozygous with respect to a missense mutation in EIF2B2, affecting a conserved amino acid. Three other patients also had mutations in EIF2B2. As eIF2B has an essential role in the regulation of translation under different conditions, including stress, this may explain the rapid deterioration of people with VWM under stress. Mutant translation initiation factors have not previously been implicated in disease. |
| Databáze: | OpenAIRE |
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