Masking genetic mutations

A group of scientists from the National Cancer Center Research Institute in Tokyo, Japan have identified a key regulator of the expression of genetic mutations and, in the process, have developed an intriguing therapeutic approach to combat prevalent genetic disorders.

We dont realize the full extent of our genetic mutations. Nonsense-mediated mRNA degradation (NMD), or mRNA surveillance, is one of the pathways that masks the effect of DNA mutations. Certain DNA sequence mutations cause the corresponding mRNA to contain a premature stop signal, called a PTC. When mRNAs containing a PTC are translated into proteins, the protein is truncated, or shortened. Depending upon what portion of the protein is missing, truncated proteins may be nonfunctional or potentially dangerous. NMD surveys mRNAs for PTCs.

NMD is an evolutionarily conserved mechanism to eliminate imperfect mRNAs containing PTCs. Although NMD has been heavily investigated in lower eukaryotic organisms, researchers have only a vague outline of the process in mammals. As published in the September 1 issue of Genes & Development, Dr. Shigeo Ohno and colleagues have discovered an important parallel between worm NMD and human NMD.

C. elegans regulates NMD by the addition of phosphate groups to the proteins involved in the NMD pathway. Dr. Ohno and colleagues have cloned and characterized the human homolog of the C. elegans smg-1 gene, which they termed hSMG-1. Like its worm counterpart, hSMG-1 encodes a protein kinase, which phosphorylates a member of the NMD pathway. Dr. Ohno and colleagues demonstrated that inactivation of hSMG-1 inhibited NMD and thereby allowed for the translation and subsequent accumulation of truncated proteins.

Dr. Ohno is quick to point out, though, that the accumulation of truncated proteins is not necessarily a detrimental event it may even be desirable. Dr. Ohno and colleagues are pursuing a therapeutic strategy involving the specific inactivation of

Contact: Nora Poppito
Cold Spring Harbor Laboratory

Page: 1 2

Related biology news :

1. Researchers determine genetic cause of Timothy syndrome
2. Rare childhood genetic syndrome identified
3. New research shows plants can shuffle and paste gene pieces to generate genetic diversity
4. Scientists decipher genetic code of biothreat pathogen
5. Chemical genetics identifies SARS inhibitors
6. 22nd amino acid synthesized and added to genetic code of e. coli bacteria
7. The impact of genetic variations on the treatment of early rheumatoid arthritis
8. Adaptive changes in the genome may provide insight into the genetics of complex disease
9. New genetic hypothesis for the cause of autism
10. Fossils reveal direct link between global warming and genetic diversity in wildlife
11. A genetic disorder yields insight into genes and cognition

Post Your Comments:

(Date:3/27/2021)... ... March 25, 2021 , ... Phlexglobal announced ... Planet Group, has selected Phlexglobal and its innovative regulatory SaaS software, PhlexSubmission, as ... a comprehensive review of five regulatory software companies, with the review team including ...
(Date:3/27/2021)... ... 25, 2021 , ... The 2021 Virtual Conference on Clinical Trial Supply-Europe ... More and more, clinical trial supply conferences are featuring speakers and forums that ... Asymmetrex’s founder and CEO, James L. Sherley, M.D., Ph.D., presented a talk ...
(Date:3/23/2021)... ... March 23, 2021 , ... G-CON Manufacturing (G-CON), the ... by Matica Biotechnology (Matica Bio), a contract development and manufacturing organization (CDMO) specializing ... the cleanroom build out for its new GMP production facility in College Station, ...
Breaking Biology News(10 mins):
(Date:3/27/2021)... ... March 24, 2021 , ... ... Life Sciences and Healthcare firms of all sizes, adds depth to its team ... specialist. Pardillo, who earned his doctorate in computational chemistry from Florida International University ...
(Date:3/27/2021)... ... March 24, 2021 , ... ABI Wellness, ... and reporting approach designed under CEO Mark Watson, today announced a webinar dedicated ... featuring guest speakers Dr. Cameron Clark, Neuropsychologist and Founder of Sharp Thinking, and ...
(Date:3/27/2021)... ... ... The Xtalks editorial team is pleased to announce the launch of the ... joined by editorial team members Ayesha Rashid, Sydney Perelmutter and Mira Nabulsi to discuss ... including insights from industry experts. , The Xtalks Life Science podcast will feature ...
(Date:3/23/2021)... Conn. (PRWEB) , ... March 23, 2021 , ... ... develops solutions for characterizing microbiome populations down to the strain level, recently unveiled ... applications. , Not all microbes are created equal: some are easy to ...
Breaking Biology Technology:
Cached News: