Health and Medicine – Page 23

Genetic Research Hits Pay Dirt

DNA The budget for the Human Genome Project and all that post-genomic, proteomic, metabonomic, immunomic…research was almost on a par with defense spending; it was almost c-omical really. Well, maybe not quite, but it stretches out with a lot of zeros nevertheless. At the time the grants were written and the funding given, we, as a society, were promised all kinds of medical miracles from gene therapies and new treatments to cure all those nasties – cystic fibrosis, sickle cell, thalassemia, cancer, heart disease and more.

We were promised personal medicine courtesy of pharmacogenomics. This would allow your doctor to profile your genome and tailor your medication to the particular set of enzymes running in your liver and whether or not you were likely to respond positively, suffer adverse effects, or simply not respond at all. We have even seen, this last few days, the sequencing of James Watson’s genome; an effort that cost less than $1m and took under four months. But do any of these promises add up to very much beyond myriad PhD theses and thousands of biotech startups many of which have already crashed?

Hopefully, the answer is yes. In the next few years, gene science will hit pay dirt as genes finally give up their real secrets and the true meaning of so-called junk DNA will become clear. Our understanding and ability to treat a wide range of disease from breast cancer and obesity to hypertension and bipolar disorder will come of age and perhaps finally succumb to all this genetic scrutiny and manipulation.

Nature, Science and the Wellcome Trust provided a useful summary of the genetic state of the art for a recent Times report by Mark Henderson on our genetic future. In the summary Henderson highlighted the latest “in press” results, most of which are now online, so I am providing here the hyperlinked executive summary:

Breast cancer – Three papers published in Nature and Nature Genetics at the end of May reported four new genes and one genomic region associated with increased risk. 10.1038/nature05887, 10.1038/ng2075, 10.1038/ng2064

Obesity – An obesity gene, the FTO gene, was published in Science in April and reported in Sciencebase at the time.

Diabetes – Again in Science (and 10.1126/science.1142382 and 10.1126/science.1142358, three common genes for increased diabetes type 2 risk were reported, bringing the total known genes associated with diabetes to nine.

Alzheimer’s disease – New results also published this week in Neuron discuss an Alzheimer’s gene

Data that were still under press embargo at the time Henderson’s feature appeared in The Times, however, meaning he could only hint at the true potential of human genome results were revealed today.

The largest ever study of genetics of common diseases in which almost 10 billion pieces of genetic information were analysed were published just one minute ago, so I can now outline the findings in a little detail. The new study compared 2000 cases each of seven common diseases with 3000 shared control patients, and reveals new genetic associations with these disorders. A pair of related papers in Nature Genetics (a and b) offer further insights into two of the seven diseases investigated.

In the Nature article, scientists from the Wellcome Trust Case Control Consortium report genetic variants associated with the development of bipolar disorder, Crohn’s disease, coronary heart disease, type 1 and type 2 diabetes, rheumatoid arthritis and hypertension. This is the first study from this large scope and it, the scientists found one genetic region newly associated with bipolar disorder, and another with coronary artery disease. A separate group of three markers have been found to be associated with rheumatoid arthritis. The researchers also identify nine new genetic associations for Crohn’s disease and ten chromosome regions that contain genes related to diabetes.

These new results would suggest a medical revolution is at hand and that the Human Genome Project and its spinoff -omics really are about to hit pay dirt. But, are we really on the verge of a new era in medicine, or are the various genetic revelations simply more grant-baiting hyperbole?

Udderly butterly

Cow Scientists in New Zealand hope to breed cows to produce low-fat, skimmed milk, not only that they are working on a new bovine breed that will produce milk that makes spreadable butter.

Apparently herd member Marge and her sisters and cousins, have the right genetic makeup required for producing skimmed milk straight from the udder and milk that makes and easily spreadable butter. The team hope to partner up with a friendly bull soon and have a commercial herd ready by 2011. Even more importantly from the human health perspective for those whole like the “white stuff” on their cereals in the morning, Marge’s milk is very low in saturated fats and so her offspring will hopefully produce high polyunsaturates and monounsaturated fat milk too.

Ed Komorowski, technical director at Dairy UK says that the New Zealand approach could be used to breed cows that still produce full-fat milk but with only the good fats, which could swing things back in favour of full-fat milk. In the UK, for example, only 25% of milk sold is full fat. “In future if whole milk can be made to contain unsaturated fats — which are good for you — then it might mean that people change back to whole milk products. The big thing about dairy products is taste, so this would be a way of giving the benefits of taste without the disadvantage of saturated fats,” he adds.

Milk from this new healthy breed of cattle could also overcome the problem of what to do with all the waste products of the dairy industry that are produced during the fat-reduction process. “If you can genetically produce milk without fat then that may turn out to be a very good solution to what might later be a big disposal issue,” says Komorowski.

The healthy cows were identified biotech company ViaLactia while screening milk compositions across the entire herd of 4 million New Zealand cattle. New Zealand dairy firm Fonterra has already made milk products from Marge’s milk and they maintain the positive taste.

The research is discussed in more detail in this week’s issue of Chemistry and Industry magazine from the UK’s Society of Chemical Industry.

Ignore your internal critic and relax

Blogger in a hammock This item could have been called “How to out-psyche yourself”, it is not exactly rocket science, but then rocket science is not one of the common topics on Sciencebase, anyway. It’s a public holiday here, today. Yes, I know…again? Oh, and over there too? Anyway, I’ve pulled together some of the chillingest out posts from the last week or so and brought them together in an easy to catch, laid back post with few words, and a hammock on stand by in case the sun comes out. Incidentally, almost all these tips, or life-hacks as some people are wont to call them basically boil down to a simple phrase, that any analyst, physician, or psychiatrist could do well to hang on their surgery door, desk, and above their sphigmomanometer – Don’t Worry, Be Happy.

So, over on lifehack itself, they posted a top ten of simple ways to save yourself from messing up your life. Seems like heavy psychological stuff from the title, but it boils down to not worrying about your feelings, taking life in your stride, and avoiding dwelling on the ramblings of your internal critic. So far, so good.

Next, over on the American Lung Association site – heart I could understand, but lung? – they are touting, not ten, not twenty, not even fifty, but fifty-three (don’t ask), surefire ways to help you chill on any day of the week not just a public holiday. Among my favourites, is “Count to 1,000, not 10, before you say something that could make matters worse.” This goes for commenting on blog posts too: “Look, before you leap”, as my grandma used to say.

Some of the more “new-agey” stuff on the web often has a decent list of howtos for relaxation and such. I am not saying that WikiHow is new age, perish the thought, but they do have a how2relax section, with the classic: “Find a quiet place when you are feeling overwhelmed. Even the stall of a bathroom will work if you have no other place to go.” You can just picture all those overwhelmed office workers, “relaxing” in the bathroom, or maybe not, we do not want to revisit any kind of Ally McBeal moment on this site, thank you very much.

At this time of year, many poor unfortunates (PUs) will have to put aside worries about who is buying the next round, and concentrate on their exams. Thankfully, the venerable University of Cambridge offers those PUs, some useful advice on simple exam-time relaxation on their student counselling website. A classic tip offered there is: “don’t use your bed as a place to work during the day”. As if, have you ever heard anything so preposterous? Students using their beds to work on during the day? Of course not…

We now know how they do it in Cambridge, England, but what about across the Pond in that other townwise homonymous centre of excellence, Harvard University? Well, Harvard U, has a Relaxation Room, of course. “The body responds to stress with increased muscle tension,” so says the RR’s website and apparently in said room you can get a massage or give a massage. Now, I don’t know about you but I don’t recall any such offers while I was studying at university. How the times change.

Finally, an NYT article discusses how to deal with past bad experiences, not by ignoring them, but by retelling them in your internal narrative as if there happened to a third party rather than you.

Anyway, deciding the best way to relax is getting too stressful, I am going to fix that hammock and take that initial advice…the bit at the end of the first paragraph.

Toxic scaremongering

The Independent on Sunday today reports that a UK researcher is claiming that fizzy drinks which contain sodium benzoate preservative (E211) could be harmful to mitochondrial DNA in our cells. Apparently, Sheffield University molecular biologist Peter Piper tested the compound on yeast cells (one of the organisms the preservative is added to drinks to eliminate in the first place). More to the point, the levels at which he assaulted the yeast was the equivalent of a person drinking ten gallons of soda in one go.

This new scare story follows closely on the tail of the benzene in soda debacle Sciencebase reported last year and the almost historical tale of benzene contamination of mineral water scare of the early 1990s. Intriguingly, The Independent article does not seem to mention the words “dose” or “concentration” once.

Perhaps there are individuals who drink large volumes of soda every day without realising there are other harmful effects of such drinks, like the concentrated sugar intake, or the relatively high levels of caffeine stimulant. But, even high-speed Digger users only claim to drink a couple of litres of Mountain Dew each day, not the ten gallons equivalent of the experiments. Perhaps experiments will push the safety threshold well below 10 gallons (please excuse the mixed units), maybe even to 1 gallon, but that’s still an awful lot of soda for anyone, even for a hardened Digger, to be drinking every day, surely?

There are many reasons to not drink soda, so instead choose tap water, choose life…

No, wait a minute, fish do their four essential biological “F’s” in water – Feeding, Fighting, Fleeing…Fu Mating. Best stick to beer.

Balancing your gut bugs

Mouse Could those so-called “bio” yogurts and milk-type drinks with Scandinavian sounding names actually do you any good? Possibly.

According to a study published in the journal Molecular Systems Biology this week, microbial flora in the gut can profoundly affect how you absorb nutritients from your food and your overall health. Jeremy Nicholson and colleagues at Imperial College London suggest that keeping a balanced gut flora may prove important to prevent some human metabolic diseases. Those active yogurts and one-day milk substitutes containing live microbes could play a role in helping you maintain the balance.

Our guts are an internal ecosystem all their own. Quite bizarrely, the microbial community living in our intestines has 100 times as many genes as the whole of the human genome. It is almost as if those living inside you outrank you yourself. However, we rely on these microbes for the normal processes of digestion and waste disposal just as much as the microbes themselves need the lining of our intestine as their stamping ground. We, and all other mammals, are not so much individuals as “superorganisms”, a collective, a symbiotic biological system.

Nicholson and his team used metabolic profiling techniques to monitor changes in bile acid composition and lipid (fatty molecule) metabolism in mice whose gut flora had been replaced by human bacterial flora. Perhaps not surprisingly, the mice showed alteration in the composition of their bile acids and circulating lipoprotein levels, and displayed symptoms such as lipid accumulation in the liver that would eventually lead to disease. Closer inspection of the mouse gut, revealed that the human gut microbes could not form a strong and stable ecosystem.

Nicholson’s findings demonstrate that gut microbes control the absorption and storage of nutrients from our food and help us harvest its energy. They also show that the wrong type of microbes can lead to disease by affecting the chemical and metabolic balance of the gut and liver.

So, should you drink those liquid bio yogurts? If you can pronounce them easily then there is probably no harm in asking for them at your healthfood store, but the message is clear: steer well away from mice.

Possums, horses, and pigs do it

Brushtail possums, photo by wollombi http://www.flickr.com/photos/wollombi/ I just received an early publication alert from the Australian research organisation CSIRO announcing the imminent publication of volume 19 of their journal on reproductive science, fascinating I thought as I opened the attachment.

First up in the list of contents was a paper that sounded rather intriguing from FC Molinia and colleagues entitled: “Uterine and vaginal insemination optimised in brushtail possums (Trichosurus vulpecula) superovulated with pregnant mare serum gonadotrophin and porcine luteinising hormone”.

So, let us just dissect what that convoluted title actually means. Basically, they stimulated brushtail possums with hormones from a horse and a pig to make it produce more eggs than normal and then artificially inseminated the females, with brushtail possum sperm, obviously. I am pretty sure it is all standard procedure for getting those little brushtails up the duff, and it is not so odd that they used horse hormones in the process, after all, one form of human hormone replacement therapy uses equine estrogen.

Something worries me a lot about this particular EarlyAlert. The abstract says that artificial insemination of brushtail possums (Trichosurus vulpecula) is being developed as an assisted breeding model for endangered marsupials, as well as a bioassay for testing fertility control vaccines to manage overabundant populations.

Hmmm…humans do not have a strong record on “assisting” animals in this way, and particularly not in Australia, I am thinking rabbits and mixomatosis, feral camels, and the infamous cane toad, to name but three. Why is it that we feel we can intervene and manage ecosystems in this way? The end results are usually disastrous and given the purportedly fragile nature of Australia’s ecosystems, should we not leave well alone?

The full paper can be accessed here.

Straight answers to health questions

Anahad O'Connor NYT reporter Anahad O’Connor sent me a review copy of his latest book, “Never shower in a thunderstorm”, which hits bookshelves in paperback this week. In it, O’Conner debunks, in the style of his regular “Really?” column, numerous health myths and misconceptions such as whether artificial light is hazardous to health, are bald men more virile (of course!), and is chicken soup good for treating the common cold?

Here’s a selection from his book, with the most straightforward answer I could extract from his excellent vignettes.

Can a glass of wine with your meal prevent food poisoning? Yes
Are ab machines the best way to build a six-pack? No
Will having sex before sports hinder your performance? No
Can having sex induce labour? No
Is yo-yo dieting unhealthy? Yes
Is bottled water cleaner than tap? No
Does packing a wallet in your back pocket cause sciatica? Yes
Do toilet seats spread disease? No
Is sitting up straight good for your back? No
Can loud music deafen you? Yes

If you want the complete explanation for his answers to these questions and many more, you will, of course, have to read the book.

Agony agonists and cancer combatants

In chemistry news this week, The Alchemist learns about slow-release drug formulations that prevent drug abuse, the risks of war associated with using depleted uranium in munitions and armour plating, and the analytical benefits of red wine that could turn up on labels to guide consumers to the most healthful Chianti or Zindanfel.

Also, this week, a well to wheel analysis reveals that hybrid cars are not as green as you would think and that converting natural gas to hydrogen for use in fuel cells could be the best environmental option for transport. Finally, web-savvy chemists using the Firefox browser have a new tool available to them that offers inline entries from blogs while they read ACS, RSC, Wiley, and other journal tables of contents.

This week’s grant goes to Bassam Shakhashiri for pioneering work in engaging the public with science and for helping to rebuild education programs after decimation by Reagan funding cuts in the 1980s.

Open access medical records

Open access medicine Fancy being a case report for medical scientists to ponder? If your answer to that question is yes, then you probably carry a donor card, regularly give blood, and have already willed your body to medical science. If the answer was no, then read on, the following may persuade you to if not donate your remains then perhaps make yourself a case in point.

Medical case reports serve a vital role in medicine. Like those howto and self-help feature articles one sees in popular lifestyle magazines, they focus entirely on an individual patient, but at a slightly more technical level. Case studies provide unique insights into the rare side effects of new medications, early warning indicators of potential new diseases, unexpected associations between diseases or symptoms, and much more. Indeed, it was through case reports in the medical literature, that the earliest information on AIDS, Lyme disease and toxic shock syndrome emerged.

In recent years, however, economic and ethical pressures have led research journals to publish fewer and fewer medical case reports. The main pressure seems to be that such papers are of limited interest when read in isolation and more problematic from the publishers’ point of view are unlikely to be highly cited. Many research journals tout citation counts as a major selling point both to authors and subscribers, so poor-selling papers are unattractive to the marketing team.

The end result, is that a vast wealth of unique scientific data is simply lost.

Michael Kidd, Professor and Head of the Discipline of General Practice at the University of Sydney, hopes to change all that. He is founder of the open access (OA) Journal of Medical Case Reports. The OA approach taken by this journal means that medical case reports can find an audience regardless of citation concerns. By utilizing the OA publishing model, interesting case reports can reach the medical profession where previously they would simply sink without trace. With open access to this information, doctors can easily compare symptoms and treatments between patients and researchers and can sift through thousands of reports to formulate hypotheses and search for patterns and correlations. Who knows when the next AIDS or Lyme disease will emerge. Case reports might provide the first hints from the unfortunate “early adopters.”

Do heavy metal fans get skin cancer

Denim jacket As it is a holiday across the UK today, there is probably little need to warn Brits of the dangers of the sun’s rays, it’s usually so cold and wet, that the chances of frostbite and rust are much higher than sunburn. That said, summer is on its way and a paper in the latest edition of the Lancet medical journal warns that sunscreen and light cotton clothing are simply not enough to protect you from skin cancer caused by exposure to ultraviolet light from the sun.

Instead, the paper’s author suggest that anyone who dares to partake of the great outdoors should wear heavy cotton clothing such as denim, wool, or polyester, to block out those damaging rays. But, should this advice be well taken? Is the sun really to blame for the apparent increased incidence of skin cancer we hear reported or could it be that our car and desk bound sedentary lifestyles in which most people barely see the sun except on their foreign holidays are more to blame for compromising our immune systems and making us more susceptible to skin and various other forms of cancer.

We’ve covered this issue previously in Sciencebase, recent evidence points to a lack of vitamin D (manufactured in the skin during sunlight exposure) as being a much higher risk factor for various cancers than sun exposure itself.

The Lancet Review authored by dermatologist Stephan Lautenschlager of Triemli Hospital, in Zurich, Switzerland, analysed the various sun protection strategies used around the globe. “Wearing sun protective clothes and a hat and reducing sun exposure to a minimum should be preferred to sunscreens,” the team writes, “Often this solution is deemed to be unacceptable in our global, outdoor society, and sunscreens could become the predominant mode of sun protection for various societal reasons, for example healthiness of a tan, relaxation in the sun.”

The Review says that linen and loosely woven cotton represent less effective sun protection and that tightly woven, thick garments made of denim, wool or polyester offer the best protection; not exactly the kind of clothing anyone but heavy metal fans would want to wear on a scorching hot sunny day.

The paper points out that several studies have shown that sunscreen protects against acute UV skin damage and non-melanoma skin cancer, it is not known whether sunscreen stops melanoma developing. And, perhaps therein lies the rub, the connection between sunlight exposure and skin cancer itself is not as cut and dried as some commentators suggest.

“Suggesting wearing denim in hot weather is I think so stupid – it is very uncomfortable. Special clothing is not needed in the UK – on rare very hot days it is better simply to seek the shade – after some exposure to get your dose of D without burning, says Oliver Gillie of London-based lobby group Health Research Forum. He points out once more, that insufficient exposure to sunlight could be doing us more harm than good in terms of increasing cancer risk because of a lack of vitamin D.

“A link between heart disease and insufficient vitamin D is emerging,” he told Sciencebase, “and the National Heart Forum is interested in this aspect of the debate.” Given that until now the sunlight and skin cancer debate has essentially been a Cancer Research UK monopoly, it will be interesting to see how the heart charity approaches the issues.

There have been numerous other research developments that have not seen the media light of day. “There are links with infectious disease,” adds Gillie, “Vitamin D is important for maintaining immune system resistance a fact well-known to those treating tuberculosis a century ago and well before the advent of antibiotics.”

Cancer Research UK says that 90% of melanoma is caused by sun exposure. “This is a very contentious figure,” Gillie points out, “and is disputed.” He adds that it could be that as few as one in ten melanoma cases are caused by sun exposure. “Poor immunity is a big factor in melanoma and people who are on immune suppressing drugs e.g. transplant patients are at high risk,” he says.

Such observations certainly cloud the picture of sun exposure as the big skin cancer killer. He also points out that purported mechanisms for DNA damage and thence skin cancer formation based on the photochemistry of DNA itself no longer stack up because it is now known that melanin, the pigment that gives rise to a tan is a protective agent against the very mutagenic molecules thought to form on sun exposure. Indeed, Raymond Barnhill and colleagues writing in the Journal of the National Cancer Institute (2005, 97, 195-199) found that people with melanoma survive longer if they have more sun exposure. This is doubly ironic in that post-treatment melanoma patients are usually advised to stay out of the sun.

If the British weather is kind for once this Bank Holiday Monday, it will pour sunshine down on all of us. So, leave the denim at home, unless you are a heavy metal fan, and make sure your icecream doesn’t melt while you are sunning yourself.