Logo by Ricardo at My Biotech Life

Gene Genie Genetics Carnival #33  is hosted by Mo from Neurophilosophy.  

Mo has a great series of genetics related articles from all the best genetics blogs in the world.  In this edition, there is a strong emphasis on cancer. There’s also a focus on leukodystrophy, and a special section on personalized genetics.

Well worth a read!

Elaine Warburton  www.geneticsandhealth.com

It’s celebrity health week at b5 media’s Health and Wellness channel!

We will be taking a look at health issues which not only affect ourselves but also our celebrities.  Often, a celebrity who is suffering from a health related problem can do so much to support the cause and bring disease warning signs to the attention of the public.  Cancer survivors such as international singers Kylie Minogue, Olivia Newton-John, cyclist Lance Armstrong and singer Sheryl Crowe have all shared their battles with us, to great effect.

Their celebrity status earned through achievements in sports, entertainment, government and the arts brings the spotlight center stage to their anti-cancer message.

Elaine Warburton  www.geneticsandhealth.com

P52 gene, arrows show locations of common mutations 

(Image courtesy www.bioinf.org)

Following on from my last article on using gene therapy for increasing survival in head and neck cancer, Professor Jack Roth, M.D., professor in M. D. Anderson’s Department of Thoracic & Cardiovascular Surgery and colleagues are now focusing on ways to deliver p53 and other tumor-suppressing genes systemically - through intravenous delivery.

The p53 gene is inactivated in many types of cancer. Its normal role is to halt the division of a defective cell and then force the cell to kill itself.

Advexin has to be injected straight into the tumor, but that’s not workable for many cancers. Head and neck cancer kills patients by recurring, not spreading to other organs, but most cancer deaths involve metastasis.

By wrapping tumor-suppressing genes in tiny balls of fat, Roth and colleagues hope to be able to treat more invasive cancers. While p53 nanoparticles are still in preclinical development, those that deliver another tumor-suppressor called FUS1 are in a phase I clinical trial for non-small cell lung cancer. Through 19 patients, the dose escalation study has yet to encounter significant side effects.

Injected nanoparticles gather mainly in tumors, where they are taken up and dissolved, leaving the tumor-suppressor gene at work in the cell. A version that combines FUS1 and p53 is under development.

Elaine Warburton  www.geneticsandhealth.com

Thank you to Jennifer Texada at MD Anderson for bringing this great cancer treatment discovery to my attention….

(Image courtesy Introgen Therapeutics)

A gene therapy invented at The University of Texas M. D. Anderson Cancer Center is the first to succeed in a U.S. phase III clinical trial for cancer.  Introgen Therapeutics, Inc a spin out from MD Anderson, reported results of its phase III trial of Advexin, a modified adenovirus that expresses the tumor-suppressing gene p53, for end-stage head and neck cancer.

The p53 gene is inactivated in many types of cancer. Its normal role is to halt the division of a defective cell and then force the cell to kill itself.

“Cells become cancerous because p53 no longer functions. Restoring p53 works unlike any current cancer treatment because it treats the cancer genome,”said Jack Roth, M.D., professor in M. D. Anderson’s Department of Thoracic & Cardiovascular Surgery, who invented the drug and co-founded Introgen.

The trial showed that p53 expression in the patient’s tumor before treatment is a reliable biomarker for how to treat head and neck cancer. Patients with a favorable p53 profile who received Advexin had an average survival of just over 7 months, compared with just under 3 months for those whose tumor expressed high levels of mutant p53 before treatment. Patients with this unfavorable profile were better off taking the chemotherapy drug methotrexate, resulting in n average survival of just under 6 months.

“The important finding is that patients who benefit from treatment can be identified with the p53 biomarker. The biomarker will enable physicians to personalize treatment,” said Roth.

Better Quality of Life

Patients treated with Advexin experienced far fewer harmful side effects such as pneumonia than those who received methotrexate. The incidence of inflammation of the mouth lining and a decrease in white blood cells, for example, both dropped to zero for those receiving Advexin.

“That certainly results in a better quality of life,” Roth noted, which makes sense because p53 does not cause problems in normal cells.

Roth’s lab has been developing gene therapy for cancer since 1990. “We wanted to go beyond conventional treatment, because most of those treatments were not very effective,” Roth said. “Surgery and radiation are limited to the local tumor and once given, it’s very hard to repeat those therapies.  Chemotherapy inhibits DNA replication, but it also interferes with normal cells.”

Elaine Warburton  www.geneticsandhealth.com

Genetics and Health is now part of b5 media’s Health and Wellness channel (formerly science and health)

This month’s theme day focused on cancer and was hosted by Marijke at ‘Help my Hurt’.  Take a look at the range of great articles on all aspects of cancer submitted by my colleagues in ‘Health and Wellness’ with a number of thought-provoking cancer advances.

 http://www.helpmyhurt.com/2008/04/23/help-my-hurt-hosts-this-months-theme-day-living-with-cancer/

Elaine Warburton  www.geneticsandhealth.com

Molecular structure of Aspartame 

I recently wrote an article on my first hand research experience on the potential carcinogenicity of Aspartame - the artificial sweetener used in thousands of everyday products, particularly diet products. It was titled “Aspartame is safe … really!”

One of www.geneticsandhealth.com readers  author Carol Guilford sent me the following interesting link to a piece of research on aspartame carried out by scientist Victoria Inness-Brown.  I cannot comment on the science behind Victoria’s study as I have not investigated it.  However, the results are quite thought provoking.

Here is the quoted introduction to Victoria’s research by Carol, followed by the link to Victoria’s results:

“In any such study of even a few hundred test animals, it takes no more than a dozen or so of them to exhibit a particular lesion… to associate with the test agent, i.e., aspartame or its related chemicals.”

When Victoria Inness-Brown contacted me about  “explosive information” concerning aspartame (Equal, NutraSweet) the controversial, artificial, chemical sweetener, I didn’t know what to expect.  Despite overwhelming scientific evidence of aspartame’s danger to human health (tires have been recalled for less) it remains in 6,000 food, drink and medicinal products.      

Who could imagine a private citizen would do  an aspartame experiment  with 108 rats for 2 years and 8 months? 

The late Dr. Adrian Gross  explained that rodent experiments are the means to find out what a particular substance will do to human beings. 

Look at Victoria’s pictures of her animals that ingested the equivalent amount of aspartame (in human terms) of less than one diet coke a day, until their spontaneous death.  Importantly, the control groups, those fed no aspartame  were free from visible effects.

The artificial sweetener, Aspartame, was approved  by the FDA, in 1981.  By the 1990’s, the FDA had a list of 92 symptoms reported to them by 10,000 consumers, a list revealed to the public under the  Freedom of Information Act.

Personally, I have read thousands of cases from aspartame victims, many who post on Yahoo’s Aspartame Victim Support Group list, but Victoria’s photographs, the first ever to be released from any study, give meaning to the hypothesis,  “A picture is worth a thousand words.”    

Following is Victoria’s gutsy account of why she did her experiment, the protocol she used to conduct it and the remarkable pictures of the rats.

http://myaspartameexperiment.com/

Elaine Warburton  www.geneticsandhealth.com

Researcher Ali S. Khashan of the University of Manchester, England and colleagues  report that women who undergo an extremely stressful event during the first three months of pregnancy have an increased risk of having children who develop schizophrenia.

Schizophrenia is a disabling condition associated with abnormal brain structure and function, and it is believed to begin in early brain development. Risk of the condition is influenced by susceptibility genes that can interact with environmental factors that occur during pregnancy.
 

The researchers’ data was drawn from 1.38 million Danish births occurring between 1973 and 1995. A national registry linked mothers to close family members, and the registry identified if mothers had experienced stressful events during pregnancy such as a family member dying or receiving diagnosis of cancer, heart attack, or stroke.

The research team followed children from their 10th birthday through June 30, 2005 or until they died, left the country, or received a schizophrenia diagnosis. During the study period, 21,987 mothers were exposed to the death of a relative during pregnancy, 14,206 were exposed to serious illness of a relative during pregnancy, and 7,331 of the offspring developed schizophrenia.

One result suggests a 67 percent greater risk of schizophrenia or related disorders among the children of women who experienced the death of a relative during the first trimester of pregnancy.

The researchers note that if the death of a relative occurred up to six months before conception or any other time during pregnancy, the event was not associated with a risk for schizophrenia. In addition, a mother’s exposure to a relative’s serious illness is also not linked to schizophrenia.

Only for individuals without a family history (parents, grandparents or siblings) of mental illness was there a significant association between a family death and risk of schizophrenia.

The authors conclude that “risk associated with exposure to a well-defined, objective stressful event confined to the first trimester of pregnancy suggests a number of possible mechanisms.” They suggest a possible effect on the fetus’ brain of chemicals released by the mother’s brain when she experiences stress. During early pregnancy, the protective barriers between the mother and fetus are not fully constructed, and the effects may be strongest.

For further information on this article from The Archives of General Psychiatry, click on:

http://archpsyc.ama-assn.org/cgi/content/short/65/2/146

Elaine Warburton www.geneticsandhealth.com

 Male Down’s Syndrome with trisomy at chromosome 21

People with Down’s Syndrome are less likey to get solid tumor cancers, research from Johns Hopkins University has revealed.

Up to 95% of Down’s syndrome cases are caused by “trisomy 21″, in which the baby has three, rather than two, copies of chromosome 21, and the hundreds of genes it contains. Advances in medical management of Down’s Syndrome patients has increased life expectancy from around 30 years of age to over 60 years of age.  This increase led to some studies finding that adults with Down’s syndrome appear to have less chance of developing certain cancers which involved “solid” tumors.

On mouse studies, the Johns Hopkins team pinpointed a single gene, Ets2, and found that the chance of developing solid tumors seemed to be related to the number of copies of the gene carried by each mouse.

However, David Threadgill, an Associate Professor of Genetics at the University of Carolina at Chapel Hill, sounded a warning note. In an accompanying article, he said that there was some evidence that Ets2 could actually boost the spread, or metastasis, of cancer around the body, making it far harder to treat. There is evidence that leukemia is more prevalent in Down’s Syndrome.

He wrote: “Individuals with Down’s syndrome are at a lower risk of developing solid tumors, probably owing to the high Ets2 levels in their epithelial cells - but they might be at a greater risk of cancer metastasis.”

Elaine Warburton

Several months ago, I wrote about the Bradfield family in which a mutation of the CDH1 gene was discovered which appears to increase the risk of stomach cancer. To my surprise, Mike Slabaugh, one of the Bradfield cousins, popped in to let people know that he was happy to help anyone who’s looking for more information. I’m glad to have had the chance to meet Mike in this interview for Genetics and Health.

1. What did you understand about genetics and its role in people’s health before you learned about the CDH1 gene and stomach cancer?

I knew that there were hereditary factors but did not know that genetics had come so far as to identify this particular gene and the mutation. Certainly some illness, including cancers seems to run in families. I was certainly aware of this factor.

2. When you were notified about the genetic mutation responsible for causing cancer in many of your family members, how did you feel? What was on your pros and cons list when deciding whether or not to undergo genetic testing?

The first feeling was one of relief. The fact that I could actually know the cause and then do something about it was amazing. Too many family members did not have the chance to do anything. There was no hesitation to be tested and no hesitation to have the surgery once the positive condition was known. I had already made up my mind that if positive, I would have the surgery, so the testing was just a confirmation.

Read more

Big news for breast cancer patients on tamoxifen. Ryan Phelan and Jason Bobe of DNA Direct were at the FDA meeting on October 18th where it was decided that information about the cytochrome P450*2D6 (CYP2D6) gene should be included on the package insert and drug label.

From DNA Direct affiliate company Genes and Drugs:

The 2D6 gene is involved in the metabolism of many drugs, including some over-the-counter medications. Different people have different variations of this gene. Some variations metabolize 2D6 drugs very quickly, while others don’t metabolize them as well. Still others don’t metabolize them at all. Knowing your genetic status may be useful to you in the future, should you be prescribed or consider taking other medications that are processed by 2D6.

Read more