It has been known for many years that aberrant levels of the factors involved in translation of mRNA can contribute to disease, most notably cancer. However, despite the wealth of information gathered about initiation and elongation factors from biochemical studies in mammalian cells, and from mutation analysis in lower organisms, little was known until recently about the effects that mutations in these factors could have on cellular function in higher organisms. In the past few years, this balance has started to be redressed, and we are at a fascinating stage in the molecular pathology of translation factors. It has been discovered recently that mutations in subunits of eukaryotic initiation factor 2B (eIF2B) underlie the neurodegenerative disease termed 'vanishing white matter'.
ASJC Scopus subject areas
- Molecular Biology