Abstract

The list of genetic diseases caused by mutations that affect mRNA translation is rapidly growing. Although protein synthesis is a fundamental process in all cells, the disease phenotypes show a surprising degree of heterogeneity. Studies of some of these diseases have provided intriguing new insights into the functions of proteins involved in the process of translation; for example, evidence suggests that several have other functions in addition to their roles in translation. Given the numerous proteins involved in mRNA translation, it is likely that further inherited diseases will turn out to be caused by mutations in genes that are involved in this complex process.

Author affiliations

1. Department of Child Neurology/Center for Neurogenomics and Cognitive Research, Vrije Universiteit Medical Center, De Boelelaan 1117, 1081HV Amsterdam, The Netherlands.
2. Department of Biochemistry & Molecular Biology and the Diabetes Research Group, Life Sciences Institute, University of British Columbia, 2350 Health Sciences Mall, Vancouver, British Columbia, V6T 1Z3, Canada.

Correspondence to: Christopher G. Proud² Email: cgpr@interchange.ubc.ca

Published online 31 July 2007

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