Fri, Apr 28, 2017 | updated 12:00 PM IST

Scientists discover association of rare childhood disease with cancer gene

Updated: Dec 02, 2016 11:36 IST      
Scientists discover association of rare childhood disease with cancer gene

Washington D.C [US], Dec. 2 (ANI): In a recent research, scientists have discovered an important molecular link between a rare childhood genetic disease, Fanconi anemia and a major cancer gene called PTEN.

Published in the Scientific Reports journal, the discovery improves the understanding of the molecular basis of Fanconi anemia and could lead to improved treatment outcomes for some cancer patients.

According to Niall Howlett, a leading expert on Fanconi anemia, the disease is characterized by birth defects, bone marrow failure and increased cancer risk.

He said the genes that play a role in the development of the disease are also important in the development of hereditary breast and ovarian cancer.

Howlett's new study now establishes a molecular link between Fanconi anemia and a gene strongly associated with uterine, prostate and brain cancer.

About 1 in 150,000 children in the United States is born with Fanconi anemia.

"People often ask why we study such a rare disease," said Howlett, who has been studying Fanconi anemia for nearly 20 years.

Adding, "First and foremost, there is no cure or effective treatments for it. So a greater understanding of the molecular basis of Fanconi anemia is critical to address this need."

In addition, there are countless examples of how the study of Fanconi anemia has greatly benefited the general population.

The first umbilical cord blood transplant, for example, was performed with a Fanconi anemia patient. Bone marrow transplants have become much safer and more effective because of studies with Fanconi anemia patients.

And new breast and ovarian cancer genes have been discovered as a result of studies on the molecular biology of Fanconi anemia.

Howlett's current research is another example of the broader impact of Fanconi anemia studies.

The URI researcher speculated about the existence of a biochemical link between Fanconi anemia and PTEN.

Mutations in PTEN occur frequently in uterine, prostate and brain cancer.

"The PTEN gene codes for a phosphatase - an enzyme that removes phosphate groups from proteins. Many Fanconi anemia proteins have phosphate groups attached to them when they become activated. However, how these phosphate groups are removed is poorly understood," explained Howlett.

The cells from Fanconi anemia patients are characteristically sensitive to a class of drugs widely used in cancer chemotherapy called DNA crosslinking agents.

"So we performed an experiment to determine if Fanconi anemia and PTEN were biochemically linked," he said.

Adding, "By testing if cells with mutations in the PTEN gene were also sensitive to DNA crosslinking agents, we discovered that Fanconi anemia patient cells and PTEN-deficient cells were practically indistinguishable in terms of sensitivity to these drugs. This strongly suggested that the Fanconi anemia proteins and PTEN might work together to repair the DNA damage caused by DNA crosslinking agents."

By using epistasis analysis, a genetic method that determines if genes work together, the team found that the Fanconi anemia proteins and PTEN do indeed function together in this repair pathway.

"Before this work, Fanconi anemia and PTEN weren't even on the same radar. This is really important to understanding how this disease arises and what its molecular underpinnings are. The more we can find out about its molecular basis, the more likely we are to come up with strategies to treat the disease," he said.

The research is equally important to cancer patients who do not have Fanconi anemia.

He said that since his study found that cells missing PTEN are highly sensitive to DNA crosslinking agents, it should be possible to predict whether a particular cancer patient will respond to this class of chemotherapy drug by conducting a simple DNA test.

"We can now predict that if a patient has cancer associated with mutations in PTEN, then it is likely that the cancer will be sensitive to DNA crosslinking agents," he said. "This could lead to improved outcomes for patients with certain types of PTEN mutations," he concluded. (ANI)

Affordable lab tests now at your doorstep

Updated: Apr 28, 2017 06:41 IST     

New Delhi [India], April 28 (ANI): Before going for any medical test, now compare the rates of different path-labs with just a click.

Full Story >>

Deal with depression in natural way

Updated: Apr 28, 2017 03:19 IST     

New Delhi [India], April 28 (ANI): Depression is world's leading illness and is one of the major reasons for suicides globally, says the World Health Organization (WHO). The story in India is no different.

Full Story >>

Parkinson's disease starts in gut: Study

Updated: Apr 27, 2017 10:03 IST     

Washington D.C. [USA], Apr 27 (ANI): A recent study suggests that parkinson's disease, a disorder of the central nervous system, may start in the gut and spread to the brain via the vagus nerve.

Full Story >>

Lung for Long: Gasp No More

Updated: Apr 26, 2017 18:45 IST     

New Delhi [India], Apr 26 (ANI-Businesswire India): Lungs in Delhi seem to be in dire straits. In the midst of ever thickening air pollution and lifestyle gone astray, lung power is ebbing fast. Data emerging from April 25 lung health camp organized in iconic Press Club of India (PCI) on the occasion of World Asthma Day pressed panic button as regards lung health of the capital city.

Full Story >>

Risk of obesity influenced by changes in our genes

Updated: Apr 26, 2017 15:22 IST     

New Delhi [India], Apr 26 (ANI): According to new study, a child's risk of obesity while growing up can be influenced by modifications to their DNA prior to birth.

Full Story >>

Patient with rare knee cancer undergoes life saving surgery

Updated: Apr 26, 2017 13:52 IST     

New Delhi [India], Apr 26 (ANI): A resident of Ganganager, in Rajasthan, was diagnosed of Large Soft Tissue Sarcoma (9Kg), with Neuro Vascular involvement.

Full Story >>

Here`s how protein impacts intellectual disability

Updated: Apr 26, 2017 07:36 IST     

Washington D.C. [USA], Apr 26 (ANI): A new study has paved the way for the potential treatments of intellectual disability and other neurodevelopmental disorders.

Full Story >>

Stem cells can help identify neuronal defects, suggests Study

Updated: Apr 25, 2017 12:26 IST     

Washington D.C. [USA], Apr 25 (ANI): According to a recent study, the researchers used stem cells derived from patients with Angelman syndrome to identify the underlying cellular defects that cause the rare neurogenetic disorder.

Full Story >>

#WorldMalariaDay: Effective steps to prevent Malaria

Updated: Apr 25, 2017 11:01 IST     

New Delhi [India], Apr 25 (ANI): The theme for World Malaria Day this year is "End Malaria for Good".

Full Story >>

Artificial Intelligence may help in diagnosing Tuberoculosis

Updated: Apr 25, 2017 11:01 IST     

Washington D.C. [USA], Apr 25 (ANI): If you are a patient of Tuberculosis, then we might have some good news for you.

Full Story >>

London [UK], Apr 25 (ANI): According to a new study, only one in five victims with serious injuries caused by child abuse in England and Wales gets treated at a major trauma centre.

Full Story >>

Gene reveals cause of fatal childhood disorder: Study

Updated: Apr 24, 2017 17:51 IST     

New Delhi [India], Apr 24 (ANI): A gene, involved in brain development, which can lead to severe disability and infant death, has been identified by scientists.

Full Story >>

Alcohol: the modern age liver killer

Updated: Apr 24, 2017 17:51 IST     

New Delhi [India], Apr 24 (ANI): Alcohol is predominantly metabolized through liver, hence its cumulative toxicity over years play important role in liver diseases or pancreatic diseases.

Full Story >>

Washington D.C. [USA], April 24 (ANI): Due to increasing deaths because of prostate cancer among men, US researchers have suggested a special screening more frequently and at an early age to avoid the development of preclinical prostate cancer - that is not symptomatic - to advanced stages.

Full Story >>

Love guzzling diet sodas? Here is why you should NOT

Updated: Apr 24, 2017 07:02 IST     

New York [U.S.], Apr. 24 (ANI): Still downing gallons of diet soda despite knowing that it wrecks your body? Maybe the knowledge of artificially sweetened beverages taking a toll on your brain as well ought to make an impact on your unhealthy habit.

Full Story >>

Washington D.C. [USA], Apr 23 (ANI): A recent study has demonstrated that in the general population, central obesity, insulin resistance, diabetes, lipid abnormalities and high alcohol consumption were the strongest predictors of severe liver disease.

Full Story >>

Breastmilk may help detect your cancer risk

Updated: Apr 23, 2017 11:50 IST     

Washington D.C. [USA], Apr 23 (ANI): Breastmilk might offer clues about a woman's cancer risk, according to a recent research.

Full Story >>

Soon, new weapon in war against obesity

Updated: Apr 23, 2017 11:14 IST     

Washington D.C. [USA], Apr 23 (ANI): A team of scientists has uncovered a potential approach to combat obesity.

Full Story >>

Turns out, being obese is worse than smoking

Updated: Apr 23, 2017 10:52 IST     

Washington D.C. [USA], Apr 23 (ANI): You may want to shed those extra kilos as a recent study has found obesity as a top cause of preventable life-years lost.

Full Story >>

Washington D.C. [USA], Apr 23 (ANI): Testing for molecular markers in the urine of kidney transplant patients could reveal whether the transplant is failing and why, according to a recent research.

Full Story >>