Arecessively inherited brain disorder called vanishing white matter (VWM) was first described in the 1990s using Magnetic resonance imaging (MRI). Affected individuals show neurological deterioration early in childhood, dying soon after diagnosis, or they may express a slow progressive form of the disease. VWM is caused by mutations in any of the five genes that encode the protein subunits of the translation initiation factor 2B. This factor helps position the ribosome on the mRNA during the initiation of translation. It is known that other cells that rapidly synthesize large amounts of protein, such as insulin-secreting cells, are also affected. Many questions about this disorder remain to be answered.
How could we study the cellular and molecular aspects of VWM?
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