Translation matters: protein synthesis defects in inherited disease.
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.
Scheper
Gert C
GC
Department of Child Neurology/Center for Neurogenomics and Cognitive Research, Vrije Universiteit Medical Center, De Boelelaan 1117, 1081HV Amsterdam, The Netherlands.
van der Knaap
Marjo S
MS
Proud
Christopher G
CG
D020121:5' Untranslated Regions / Q000235:genetics; D000818:Animals; D005786:Gene Expression Regulation; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000378:metabolism*; D006801:Humans; D008928:Mitochondria / Q000235:genetics; D008954:Models, Biological; D009154:Mutation / Q000502:physiology; D010445:Peptide Elongation Factors / Q000235:genetics; D010448:Peptide Initiation Factors / Q000235:genetics; D010454:Peptide Termination Factors / Q000235:genetics; D014176:Protein Biosynthesis / Q000235:genetics*; D012343:RNA, Transfer / Q000235:genetics; D012270:Ribosomes / Q000235:genetics
D020121:5' Untranslated Regions; D010445:Peptide Elongation Factors; D010448:Peptide Initiation Factors; D010454:Peptide Termination Factors; D012343:RNA, Transfer