RNA translation

Pathology

 translation diseases

• Wolcott-Rallison syndrome

 Reticulum endoplasmic

• reticulum endoplasmic stress

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.

Video

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Reviews

 Scheper GC, van der Knaap MS, Proud CG. Translation matters: protein synthesis defects in inherited disease. Nat Rev Genet. 2007 Sep;8(9):711-23. PMID: 17680008

 Scheper GC, Proud CG, van der Knaap MS. Defective translation initiation causes vanishing of cerebral white matter. Trends Mol Med. 2006 Apr;12(4):159-66. PMID: 16545608

 Stoneley M, Willis AE. Aberrant regulation of translation initiation in tumorigenesis. Curr Mol Med. 2003 Nov;3(7):597-603. PMID: 14601635

 Calkhoven CF, Muller C, Leutz A. Translational control of gene expression and disease. Trends Mol Med. 2002 Dec;8(12):577-83. PMID: 12470991

 Mendez R, Wells D. Location, location, location: translational control in development and neurobiology. Trends Cell Biol. 2002 Sep;12(9):407-9. PMID: 12220852

References

 Teresi RE, Zbuk KM, Pezzolesi MG, Waite KA, Eng C. Cowden syndrome-affected patients with PTEN promoter mutations demonstrate abnormal protein translation. Am J Hum Genet. 2007 Oct;81(4):756-67. PMID: 17847000