Navigation Links
Gene Defects Determine Susceptibility to Cancer and Bone Marrow Failure

A new study has now highlighted that certain gene defects that control of protein synthesis can either increase or decrease an individual's susceptibility to cancer and other diseases. //Surprisingly, such genetic mechanisms can be responsible for cancer although the protein levels are normal, reveals the study that has been published in the journal, Science.

Directed by molecular biologist Davide Ruggero, Ph.D., of Fox Chase Cancer Center's human genetics program, the study attributed the protein defects to a critical glitch in the protein assembly line of ribosomes. This highlights the importance of proteomic research analyzing proteins.

‘While defects in a number of genes are known to lead to cancer and disease, this opens up a new avenue of research,’ Ruggero said. ‘The DNA may be fine, but now we see another means by which the product it encodes can become defective.’

Until now, little has been known about how disease may result from abnormal ribosomes--the protein factories of cells, which use RNA to translate the DNA blueprint into functional proteins. Ruggero's laboratory focuses on understanding control of ribosome activity and how disruptions in RNA translation predispose people to cancer.

His new study shows that specific defects in RNA translation underlie a progressive disease called dyskeratosis congenita. It involves multiple organ systems and includes premature aging and increased susceptibility to cancer. The disease results from a gene mutation, Dkc1, that affects ribosome function.

Dyskeratosis congenita involves abnormal bone marrow leading to anemia, immune deficiency and infections; increased risk of various cancers, including lymphoma; and, starting as early as age 10, abnormalities of skin, nails and mucous membranes that resemble premature aging syndromes. The majority of patients are male.

The Fox Chase researchers used a variety of approaches to study the Dkc1 mutation in cells f rom humans with dyskeratosis congenita and in a genetically altered mouse model. Ruggero had previously developed this model, which faithfully recapitulates the human disease in mice.

The scientists found a decrease in production of certain proteins due to a specific defect in RNA translation that depends on a sequence called internal ribosome entry site (IRES). This particular sequence occurs in only some of the messenger RNAs that translate the DNA code into proteins.

‘One of these proteins with decreased levels is governed by a gene, p27, that normally works to suppress tumors,’ Ruggero pointed out. ‘This could be a key explanation for the increased tumor susceptibility seen in patients with dyskeratosis congenita.

‘Two other proteins found in the study, XIAP and Bcl-xL, are involved in regulating the normal dying off of cells, a process called programmed cell death or apoptosis. These particular proteins help cells survive during stress conditions, so a decrease in their levels could be important in explaining the high death rate of blood stem cells that leads to bone-marrow failure in patients.’ The proteins Ruggero's new research identifies in connection with blood stem-cell depletion may also provide potential targets for developing new treatments for dyskeratosis congenita.

According to Ruggero, one long-term goal ‘is to see if we can apply our knowledge of protein synthesis control to the discovery of therapeutic agents that target the translational machinery in cancer cells and human disease.’

'"/>




Related medicine news :

1. IVF technique May Increase The Risk Of Birth Defects
2. Epilepsy Drugs Can Enhance Risk of Birth Defects
3. Fortifying Foods Found To Reduce Birth Defects
4. Making Fortification Mandatory In Order To Reduce Birth Defects
5. Birth Defects Caused By Drugs Used For Epilepsy
6. Birth Defects Caused By Acne Medication Can Be Minimized By Voluntary Pregnancy Prevention
7. Addition Of Folic Acid In Flour Proposed To Arrest Birth Defects In The UK
8. Risk Of Birth Defects Slightly Increased Due To IVF
9. Risk Of Birth Defects Increased Due To Anti-Depressant Medication
10. Folic Acid Improves Survival Rate Of Children With Birth Defects
11. Birth Defects Caused By Deficiencies In Cell Signaling Pathway
Post Your Comments:
*Name:
*Comment:
*Email:


(Date:12/8/2016)... ... ... California Senate Bill (SB) 863, signed into law in 2012, may have contributed ... to CompScope™ Medical Benchmarks for California, 17th Edition , a study by the ... per claim in California decreased 4 percent in 2013 and then 3 percent in ...
(Date:12/8/2016)... ... December 08, 2016 , ... ... services from offices headquartered in Little Rock, has initiated a charity drive to ... the National Foundation to End Senior Hunger, Arkansas ranks first in senior hunger ...
(Date:12/8/2016)... ... December 08, 2016 , ... Coppin Insurance Agency, an insurance and ... and around the Cape Coral area, is embarking on a charity drive with the ... Florida. , The Harry Chapin Food Bank of Southwest Florida works to provide fresh ...
(Date:12/7/2016)... ... December 07, 2016 , ... DrugDev again ... that it is one of the early adopters completing EU-U.S. Privacy Shield Certification from ... to provide companies on both sides of the Atlantic with a mechanism to comply ...
(Date:12/7/2016)... ... December 07, 2016 , ... Children ... bodies, a researcher at the Icahn School of Medicine at Mount Sinai has ... found that when young children are exposed to secondhand marijuana smoke, measurable amounts ...
Breaking Medicine News(10 mins):
(Date:12/8/2016)...  Pennsylvania Physician General Dr. Rachel Levine ... Gary Tennis released safe prescribing guidelines ... developed with the help of a task force. ... frequently prescribed for anxiety or insomnia," said Dr. ... pain medications, benzodiazepines pose a significant risk for ...
(Date:12/8/2016)... Information products and services provider Elsevier has launched ... world,s largest abstract and citation database of peer-reviewed literature, providing the ... 5,000 publishers. The new set of metrics will improve decisions on ... adjust a journal,s editorial strategy. ... , CiteScore metrics comprise ...
(Date:12/8/2016)... , December 8, 2016 According ... Diabetes Injection Pens Market is expected to be worth ... US$4.9 bn in 2015. Between the forecast years of 2016 ... a CAGR of 7.9%. The leading players operating in the ... Lilly and Company, AstraZaneca plc., Biocon Ltd., and Sanofi S.A. ...
Breaking Medicine Technology: