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Study provides insight into cellular defenses against genetic mutation

Nature's finesse revealed in quality surveillance systemWith their latest discovery, researchers have significantly advanced the understanding of how human cells protect themselves from constant and potentially destructive changes in gene expression. According to an article published in this month's Nature Structural & Molecular Biology, the research is important because the protection itself can contribute to disease, and the ability to side-step it may lead to new treatments for hundreds of genetic disorders.

The blueprint for the human body is encoded in genes, many of which hold the information necessary for the building of one or more proteins. Gene expression is the process by which information stored in genes is coverted into proteins that make up the body's structures and carry out its functions. While genetic instructions are stored in chains of deoxyribonucleic acids (DNA), they are put into practice by ribonucleic acids (RNA). Messenger RNA (mRNA), a modified copy of DNA, is transported to cellular factories called ribosomes that receive instructions for building proteins by "reading" mRNA templates.

Over time, genes evolve to show changes in their makeup. Some changes, or mutations, have no impact, some provide advantages making organisms more likely to survive, and others cause disease. One frequently occurring, damaging class of mutation is the inclusion of premature "stop reading" signals (stop codons) within mRNAs. Called "frameshift" or "nonsense" mutations, they order the genetic process to stop reading part way through the instructions, resulting in the building of incomplete proteins. Affected mRNAs create shortened, disabled proteins that can sabotage natural processes by competing for spots usually held by their full-length counterparts, or by simply not working.

In recent years, researchers at the University of Rochester Medical Center have revealed the existence of a natural surveillance system that determines wh
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Source:University of Rochester Medical Center


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