Sun, Aug 20, 2017 | updated 01:34 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)

Washington D.C. [USA], Aug 20 (ANI): Good news! Now an eye test can predict Alzheimer's disease two decades prior to symptoms emergence, claims a new study.

Full Story >>

Dengue: what you should know

Updated: Aug 20, 2017 07:01 IST     

New Delhi [India], August 20 (ANI): Dengue, a viral disease transmitted by mosquitoes, causes about 50 to 100 million infections per year worldwide. According to the statistics by the National Vector Borne Disease Control Programme, India has recorded over 33, 964 cases of dengue in 2017 so far.

Full Story >>

Quashing the claim against antidepressants

Updated: Aug 19, 2017 09:39 IST     

Washington D.C. [USA], Aug 19 (ANI): A recent study has rebutted the claim that antidepressants do not work.

Full Story >>

Washington D.C. [USA], Aug 19 (ANI): Turns out, smokers are 20 percent more likely to quit if cigarettes cost a dollar more.

Full Story >>

New HIV-tracking approach paves way for better therapies

Updated: Aug 19, 2017 08:25 IST     

Washington D.C. [USA], Aug 19 (ANI): A team of researchers has come up with a novel method of tracking HIV infection that could help lead to the development of novel therapies.

Full Story >>

Vitamin C may help genes to kill blood cancer stem cells

Updated: Aug 19, 2017 07:13 IST     

Washington D.C. [USA], Aug 19 (ANI): Good news! A study has recently revealed that vitamin C may tell faulty stem cells in the bone marrow to mature and die normally, instead of multiplying to cause blood cancers.

Full Story >>

Vitamin D deficiency ups heart failure risk in older adults

Updated: Aug 19, 2017 07:07 IST     

Washington D.C. [USA], Aug 19 (ANI): You may advise your grandparents to include dairy products, orange juice, soy milk and cereals in their diet, as a study has recently warned that vitamin D deficiency was linked with a 12.2-times increased risk of heart failure in older adults, especially men.

Full Story >>

Washington D.C. [USA], Aug 19 (ANI): A new study suggests that the smallpox vaccine might actually have come from horses, not cows.

Full Story >>

Sedentary urban life responsible for piles in youth

Updated: Aug 18, 2017 19:24 IST     

New Delhi [India], Aug 18 (ANI): Every year, almost 10 million people in India suffer from the pain of piles, a disease that is spreading fast due to stress, insomnia, constipation, and a growing inclination for fast food in the sedentary lifestyle of urbanites. Various studies suggest that every second individual in the world comes across piles at some point between 45 to 65 years of, and a large number of women experience piles (haemorrhoids) during pregnancy. The most alarming concern, however, is that teens and youths in their early twenties are also experiencing piles these days, and there is an urgent need to inculcate good food habits to combat the problem timely.

Full Story >>

All you need to know about Swine Flu

Updated: Aug 18, 2017 19:09 IST     

New Delhi [India], Aug 18 (ANI): Being a transferable disease, Swine Flu induces a panic in all of us whenever it infects even a single person. No one is invincible, but we can always practice better caution and cure.

Full Story >>

New Delhi [India], August 18 (ANI): Onco-surgeons at a Delhi-based hospital recently performed a highly risky and laborious surgery on a 39-year-old Russian patient, Emil Abdullaev.

Full Story >>

New Delhi [India], August 18 (ANI): The Joint Secretary of the Ministry of Health & Family Welfare (MoH&FW), Lav Aggarwal, gave a presentation on the National Policy for Treatment of Rare Diseases to Justice Manmohan in the Delhi High Court and highlighted the important aspects.

Full Story >>

Roving surgical robot to tour four key Andhra Pradesh cities

Updated: Aug 18, 2017 12:12 IST     

Visakhapatnam (Andhra Pradesh) [India], Aug.18 (ANI-Businesswire India): Cancer is a relentless disease. Damaging organs and tissues in its wake, cancer can be insidious in its onset, hiding malignant cells and tumours in the most unreachable parts of the body.

Full Story >>

Overuse of antibiotics may affect body's immune system: Study

Updated: Aug 18, 2017 07:18 IST     

Washington D.C. [USA], Aug 18 (ANI): A word of caution! A new study has shown that overuse of anibiotics made neutrophils - a type of immune cell - less effective in fighting infections.

Full Story >>

Washington D.C. [USA], Aug 18 (ANI): Beware! A study has recently warned that individuals with poor kidney function had an increased risk of developing infections acquired in the community - lower respiratory tract infections, urinary tract infections and sepsis.

Full Story >>

Cloudy water risks your stomach health

Updated: Aug 17, 2017 12:53 IST     

Washington D.C. [USA], Aug 17 (ANI): A new study has linked cloudy drinking water, even if it's within the limits allowed by some cities, to increased cases of gastrointestinal illness.

Full Story >>

Soon, a 'powerful' pain reliever that could end opioid crisis

Updated: Aug 17, 2017 11:07 IST     

Washington D.C. [USA], Aug 17 (ANI): A team of scientists has discovered what they say is a powerful pain reliever that acts on a previously unknown pain pathway.

Full Story >>

Using e-cigarettes daily can help you 'kick the butt'

Updated: Aug 17, 2017 10:17 IST     

Washington D.C. [USA], Aug 17 (ANI): If you've been struggling to kick that cigarette addiction of yours, you may want to turn to the electronic version of butts as a recent study has suggested so.

Full Story >>

E-cigarette may help people quit smoking: Study

Updated: Aug 17, 2017 07:07 IST     

Washington D.C. [USA], Aug 17 (ANI): Good news! Vaping is safer, as a study recently reveals that adults who use e-cigarettes daily were three times more likely to quit cigarettes compared to those who have never tried e-cigarettes.

Full Story >>

Washington D.C. [USA], Aug 16 (ANI): Older people receiving electric shock therapy, also known as electroconvulsive therapy (ECT), to combat the blues of age will need an additional treatment if insomnia is one of their symptoms, according to a recent study.

Full Story >>