Archive for the 'genes' category

The Gene that Stops Breast Cancer Spread

Over 90% of deaths from breast cancer are caused by metastasis, when the cancer has returned and spread to other parts of the body, including the chest wall, lymph nodes, bones, lungs, liver or brain. But Breastcancer.org says that metastatic breast cancer is more treatable compared to a cancer that starts in the bones or liver so that’s good news.

nucillustration000533-Progression-o-metastasis-breast-cancer-cells

Well, researchers from The Wistar Institute has uncovered another good news – they identified the gene that can suppress the spread of tumor cells in the body!

The gene, KLF17, is called a “metastasis-suppressor gene” which prevents the spread of cancer cells from the breast to the lungs (as in the study) when it is turned on, and promotes metastasis when it is knocked down, damaged or absent. The protein from KLF17 attaches itself to the promoter region of the gene Id1 (a key metastasis regulator in breast cancer) to prevent its transcription.

Previous to this study, the function of KLF17 has been unknown so the scientists are still continuing to study KLF17. One possible cancer therapy would be to activate the gene in cancer cells, hence preventing its spread.

The report appeared online this week in Nature Cell Biology.

via Science Daily

Post from: Genetics & Health


The World’s Greatest DNA Detective

It all started when I read about the mystery of the “Unknown Child” who drowned in the Titanic. In 1912, a small child, wearing a petticoat, frock, socks and leather shoes, was found among the wreckage of the Titanic and buried in Nova Scotia. The boy became known as The Unknown Child, and a symbol for all 53 children who died.

Nothing was left in the grave of the child except three little teeth, and clues that lead to two possible identities: 13-month old Eino Panula of Finland, and 19-month old Sidney Goodwin of England. So the U.S. U.S. Armed Forces DNA Identification Lab turned to someone who was great at finding people – DNA Detective Colleen Fitzpatrick.

Fitzpatrick is a nuclear physicist who gave up her day job to become a forensic genealogist, one finds people – dead or alive –when no one or nothing else can.

“When the U.S. military found a severed arm from a 1948 plane crash, they called Fitzpatrick. When Titanic experts exhumed the remains of the Unknown Child, they too called Fitzpatrick.”

Says Fitzpatrick of herself, “I can find anybody in the world." After looking through records that went back to 1800, Fitzpatrick solved the mystery of the Unknown Child, and after that the mystery of the Severed Arm. Colleen is also involved in the Amelia Earhart Project, and uncovering two fraud cases involving WWII survivor and a Holocaust author.

The OC Register is writing a 4-part series about the DNA Detective and her latest mystery “B.K. Doe”, a man who lost his memory after being beaten and left naked behind a Burger King.

Read the articles. It’s like reading a mystery novel, only the stories are true.

Post from: Genetics & Health


Interview Expert Addreses Swine Flu Vaccine

Countries all over the world are taking serious steps to stop the swine flu pandemic. China began its mass vaccination last week. And by October 5, the United States will distribute the first wave of swine flu vaccines, good for 6 million to million people. But the swiftness of government health agencies and the World Health Organization to address this issue is evidence about how rapid the H1N1 influenza virus has spread.

maxphotos220552-vaccine-h1n1 It bears repeating that we need to take precautions in protecting ourselves and our families against the H1N1. What symptoms do you look for in swine flu? The symptoms of swine flu are similar to regular season flu, so report to your doctor if you have any symptoms. You will not know just from the symptoms what kind of flu you have.

I know it can seem very confusing with all the flu viruses going around. Wasn’t there a time when the bird flu was the pandemic scare? And when that didn’t happen, the swine flu took us by surprise!

So I spoke to an children’s infectious disease expert from Seattle Children’s Hospital to get some understanding about the global pandemic that is the H1N1 flu. Dr. Danielle Zerr is the co-chair of the Infection Control Committee at Seattle Children’s Hospital.

Dr. Zerr talked about three main points:

  • The H1N1 is a humanized flu virus, whereas the bird flu was a purely bird flu type. And this human component makes us easily vulnerable to it.
  • Should there be enough for everyone, people should get vaccinated, including older children and young adults.
  • The vaccine works within two weeks of getting the shot.

More after the cut.

What makes humans so vulnerable to the swine flu?

Dr. Danielle Zerr: People don’t have immunity to it so it is able to pass easily from person to person, and infect large numbers of people.

This virus is a humanized influenza virus. There’s a genetic component from swine, bird and human flu viruses, it can spread easily from person to person. Whereas the bird flu is very much a bird flu strain. The concern with bird flu was that it would gain a human component and become humanized and spread easily.

So the swine flu already combined with human genes so that makes us more vulnerable?

Right and we should call it a novel H1N1, just to be clear, because it’s clearly not just a swine flu.

How fast is the virus mutating?

Zerr: Relative to the vaccines? Typically the vaccine being developed should be good for us this season. Then you will see small changes happen so that by the next seasons forward it won’t be as good as a match. But we can be confident that it’s good this season. [H1N1 flu virus] doesn’t mutate that quickly.

The studies have shown that with the novel h1n1 vaccines, in adolescent and adults, over 90% are getting a good antibody response to the vaccine.  There are studies in children that are ongoing and being completed. I haven’t seen the results from those studies except there is an indication that younger children will need two vaccines to get the good antibody level to protect them from the flu.

If we had enough vaccines, should everyone get vaccinated?

Zerr: If we had enough vaccines everyone could get vaccinated, but in the beginning won’t be enough. The CDC has designed a plan who should get it first, and then when there’s more vaccine other groups can get it.

How quickly does it work?

Normally people will have good antibody levels after two weeks after having the vaccines.

Why are young people between 20-30 the age group with highest incident (or mortality)? They’re supposedly the most fit.

I would need to see the data that you’re talking about. I don’t know that their the group has the highest mortality rate. But in this age of children and young adult, they’re the ones that are being infected at a very high frequency.

Would that have anything to do with their make-up or exposure?

It’s an exposure issue. When you think about kids and young adults in school, in colleges, in their social settings, there’s just much more potential for exposure.

Are there studies that show higher risks of genetic susceptibility in some segment of the population? Are there segments in society that have natural immunity?

I haven’t seen that.

Image: Newscom

Post from: Genetics & Health


Wilson’s Disease – A Body Full Of Copper

I read about Jessa Perrin’s story and was struck with how her world was turned upside down by a rare disease.

pttmedical009429-IAHUMED056793-01-chromosome-defect Jessa Perrin was backpacking in Israel when she suddenly became ill. Her skin turned yellow and her liver, kidneys and lungs failed within a day of being admitted to the hospital. She wasn’t even diagnosed with anything yet, but she needed liver transplant fast, or else she was not going to last a week.

The doctors finally diagnosed Jessa with Wilson’s Disease, a rare, recessive genetic disorder that shuts down the body’s ability to get rid of copper. Jessa inherited two abnormal copies of the ATP7B gene, one from each of her parents (who were carriers). Because it’s a recessive trait the carrying parents do not have any symptoms and have no known family history of the disease. Symptoms begin to appear from aged 2 to 72 years, since it takes a while before the body accumulates so much copper before it causes organ damage. Some of the symptoms are:

  • swelling of the liver or spleen
  • jaundice, or yellowing of the skin and whites of the eyes
  • fluid buildup in the legs or abdomen
  • a tendency to bruise easily
  • fatigue

 

Jessa Perrin was fortunate that she was able to get a new liver and be treated for other symptoms of Wilson’s disease. Her sister was also fortunate – she was found negative for the abnormal alleles.

 

 

Here are some points to remember about Wilson’s Disease (source: NIH):

  • Wilson disease prevents the body from getting rid of extra copper.
  • Wilson disease first attacks the liver, the central nervous system, or both.
  • Anyone with unexplained liver disease or neurologic symptoms with evidence of liver disease should be screened for Wilson disease.
  • Wilson disease requires lifelong treatment to reduce and control the amount of copper in the body.
  • If the disorder is detected early and treated effectively, people with Wilson disease can enjoy good health.

Post from: Genetics & Health


Rare Gene Behind Short Sleepers Found

Every blogger will wish he has this gene! Scientists discovered a rare genetic mutation that allows certain people to sleep on less hours without any adverse effect. In one family, a mother and daughter with this rare mutation needed only six hours of sleep each night while the rest of the family needed the typical 7-8 hours.

Gene for Short Sleeper Found. Image: sxc

Gene for Short Sleeper Found. Image: sxc

Published in Science, researchers from the University of California- San Francisco isolated the gene as DEC2, involved in the regulation of circadian rhythms, the body’s clock. The scientists then bred mice and fruit flies that carried the mutation and found the mutant mice slept less and needed less time to recover from sleep deprivation.

According to health experts, a typical adult needs at least 7-8 hours of sleep each night for the body to function properly. Chronic sleep deprivation has long term effects on our health, relationships, handling of stress and quality of life. Sleep deprivation also increases the risk to injuries, and is responsible for thousands of automobile crashes each year. And if sleep deprived people also harbor a gene called PER3, then they will also have issues with cognitive function.

And bloggers? Ha-ha. It’s common knowledge that we don’t sleep, but maybe someday a drug will be invented from this research that will block the normal gene and help us to sleep less and still feel great the next day. Or at least reset our body clock.

Meantime, this blogger will have to contend with getting enough sleep.

via: Yahoo; Image: sxc

Post from: Genetics & Health