Thu, Jun 29, 2017 | updated 06:12 AM 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)

Taking 5 and more medicines in 65 may up risk of death

Updated: Jun 28, 2017 14:10 IST     

Washington D.C. [USA], June 28 (ANI): Ask your grandparents to consult their doctor about all the medications they take as a study warns that older adults, who take more than five medications, are at increased risk of falls, frailty, disability and even death.

Full Story >>

Washington D.C. [USA], June 28 (ANI): A team of scientists has discovered an enzyme that increases male hormones and metabolic complications - Type-2 diabetes and fatty liver disease - in women with Polycystic Ovary Syndrome (PCOS).

Full Story >>

Jaipur (Rajasthan) [India], June 28 (ANI-Businesswire India): New research and project results from the Rajasthan Nutrition Project show dramatic improvement in the food security, nutrition, and health practices of women, girls and infants. In just two years time, the percentage of female heads of households reporting that they are food secure increased from 21 to 53 percent, with similar increases for their children.

Full Story >>

High time you should stop re-using plastic bottles

Updated: Jun 28, 2017 07:12 IST     

London [UK], June 28 (ANI): While drinking plenty of water this summer season is a good option, refilling that plastic bottle again and again could actually be doing more harm than good.

Full Story >>

Washington D.C. [USA], June 28 (ANI): According to a recent study, moderate-intensity exercise can help even extremely obese older adults improve their ability to perform common daily activities.

Full Story >>

Washington D.C. [USA], June 27 (ANI): Relax your mind if you have a heart disease, as a study has found that people, who persistently experience moderate to severe mental distress are at increased risk of death.

Full Story >>

Washington D.C. [USA], June 27 (ANI): Beware if you work in late night shifts, as according to a study, working at night may hinder your body's ability to repair damaged DNA caused by normal cellular processes.

Full Story >>

Study finds why osteoarthritis is more common in females

Updated: Jun 27, 2017 07:31 IST     

Washington D.C. [USA], June 27 (ANI): Osteoarthritis -- a disease of joints -- is reported more among women than men. According to experts, fluid in the knee holds clues why women are more prone to it.

Full Story >>

Washington D.C. [USA], June 27 (ANI): According to a new study, premature infants still have a greater risk compared to full-term babies of dying of sudden infant death syndrome (SIDS) and other sleep-related infant deaths.

Full Story >>

Washington D.C. [USA], June 27 (ANI): A recent study has found that early antiretroviral treatment (ART) at the time of diagnosis may lead greater bone loss compared with deferring ART.

Full Story >>

Untreated polyarthritis can deform joints permanently

Updated: Jun 26, 2017 13:45 IST     

New Delhi [India], June 26 (ANI): Chikungunya, the bone breaking fever, being one of the reasons for polyarthritis , may become a rampant disorder.

Full Story >>

Education, training needed to help human trafficking victims

Updated: Jun 26, 2017 12:17 IST     

Washington D.C. [USA], Jun 26 (ANI): Knowing a little bit more about human trafficking could help save someone and so, a recent research has highlighted the need for education and training.

Full Story >>

Boozing makes ageing clock tick faster

Updated: Jun 26, 2017 10:57 IST     

Washington D.C. [USA], Jun 26 (ANI): Next time you reach for that glass of whiskey, you may want to rethink as a recent research has revealed that the more alcohol you drink, the more your cells appear to age.

Full Story >>

Improving cancer detection with help of body noise

Updated: Jun 26, 2017 07:40 IST     

Washington D.C. [USA], Jun 26 (ANI): According to a recent research, body's own 'seismic noise' can help improve the cancer detection.

Full Story >>

Wound healing goes up in cigarette smoke

Updated: Jun 26, 2017 07:35 IST     

Washington D.C. [USA], Jun 26 (ANI): When it comes to wound healing, vaping may be better than cigarette smoking, according to a recent research.

Full Story >>

Paracetamol during pregnancy can put unborn boys at risk

Updated: Jun 25, 2017 14:45 IST     

New Delhi [India] June 24, (ANI): Pregnant? You may want to rethink popping those paracetamol pills as a recent study has suggested that doing so can harm the masculinity of your unborn son.

Full Story >>

Excessive texting is bad for your wrists

Updated: Jun 25, 2017 11:48 IST     

New York [US], June 25 (ANI): Texting, the thing we do most with our phones, takes a toll on our health.

Full Story >>

Ozone exposure ups autism odds in at-risk people

Updated: Jun 24, 2017 19:47 IST     

Washington D.C. [USA], Jun 24 (ANI): Elevated exposure to ozone can put individuals with high levels of genetic variation at an even higher risk for developing autism than would be expected by adding the two risk factors together, according to a recent analysis.

Full Story >>

Washington D.C. [USA], June 24 (ANI): People suffering from advanced kidney cancer, we have some good news for you.

Full Story >>

Washington D.C. [USA], June 24 (ANI): In a recent study, leisure activities like going for a walk outside, reading, listening to music and other fun activities can reduce blood pressure for elderly caregivers of spouses with Alzheimer's disease.

Full Story >>