A US study concluded the mutated huntingtin protein, which causes the disease, could be stopped in its tracks by a subtle chemical modification.

It is hoped the work could lead to much-needed treatments for the inherited disorder.

The study, by the University of California, Los Angeles, is published in the journal Neuron.

It is thought between 6,000 and 8,500 people in the UK have Huntington’s disease - a neurological condition that starts to show in mid-life and slowly impairs a person’s ability to walk, talk and reason.

Children who have one parent with the condition have a 50% chance of developing it themselves and often it is passed on before people are aware that they have it.

There is no cure for the illness and treatment focuses on managing the symptoms.
“ This finding suggests an exciting new avenue to develop therapeutics for Huntington’s disease ”
Study leader Dr William Yang

Although it is known that a protein mutation underpins the disease, it is not exactly clear how that mutation causes the damage seen in those with the condition.

In the latest study, researchers found a small section of the mutated protein that can be modified by phosphorylation - a chemical process in the body that alters how proteins function.

In mice they found blocking this phosphorylation caused the animals to develop disease symptoms.

But when they tried to mimic the process the disorder did not develop.
“ This research offers an exciting avenue of exploration in the quest to prevent or slow down the disease process ”
Cath Stanley Huntington’s Disease Association

It follows previous work showing phosphorylation reduced the tendency of the mutant huntingtin protein to form clumps and another study showing it could help cells get rid of the toxic version of the protein.

Study leader Dr William Yang said together the studies suggested a new direction of research into the formation and clearance of the huntingtin protein in the disease process.

"We were surprised to find that subtle modification of only two amino acids in this very large protein can prevent the onset of disease.

"This finding suggests an exciting new avenue to develop therapeutics for Huntington’s disease."

Huntington’s Disease Association head of care services Cath Stanley said: "Although in the very early stages, this research offers an exciting avenue of exploration in the quest to prevent or slow down the disease process."

Source: BBC News

Not only will the cancer maps pave the way for blood tests to spot tumours far earlier, they will also yield new drug targets, says the Wellcome Trust team.

Scientists around the globe are now working to catalogue all the genes that go wrong in many types of human cancer.

The UK is looking at breast cancer, Japan at liver and India at mouth.

China is studying stomach cancer, and the US is looking at cancers of the brain, ovary and pancreas.

“ These catalogues are going to change the way we think about individual cancers ”
Wellcome Trust scientist Professor Michael Stratton
The International Cancer Genome Consortium scientists from the 10 countries involved say it will take them at least five years and many hundreds of thousands of dollars to complete this mammoth task.

But once they have done this, patients will reap the benefits.

Professor Michael Stratton, who is the UK lead, said: "These catalogues are going to change the way we think about individual cancers.

"By identifying all the cancer genes we will be able to develop new drugs that target the specific mutated genes and work out which patients will benefit from these novel treatments.

"We can envisage a time when following the removal of a cancer cataloguing it will become routine."

It could even be possible to develop MoT-style blood tests for healthy adults that can check for tell-tale DNA patterns suggestive of cancer.

Russian roulette

The scientists found the DNA code for a skin cancer called melanoma contained more than 30,000 errors almost entirely caused by too much sun exposure.

“ Most of the time the mutations will land in innocent parts of the genome, but some will hit the right targets for cancer ”
Wellcome Trust researcher Dr Peter Campbell
The lung cancer DNA code had more than 23,000 errors largely triggered by cigarette smoke exposure.

From this, the experts estimate a typical smoker acquires one new mutation for every 15 cigarettes they smoke.

Although many of these mutations will be harmless, some will trigger cancer.

Wellcome Trust researcher Dr Peter Campbell, who conducted this research, published in the journal Nature, said: "It’s like playing Russian roulette.

"Most of the time the mutations will land in innocent parts of the genome, but some will hit the right targets for cancer."

By quitting smoking, people could reduce their cancer risk back down to "normal" with time, he said.

The suspicion is lung cells containing mutations are eventually replaced with new ones free of genetic errors.

By studying the cancer catalogues in detail, the scientists say it should be possible to find exactly which lifestyle and environmental factors trigger different tumours.

Treatment and prevention

Tom Haswell, who was successfully treated 15 years ago for lung cancer, believes the research will benefit the next generation:

"For future patients I think it’s tremendous news because hopefully treatments can be targeted to their particular genome mutations, hopefully… reducing some of the side effects we get".

Cancer experts have applauded the work.

The Institute of Cancer Research said: "This is the first time that a complete cancer genome has been sequenced and similar insights into other cancer genomes are likely to follow.

"As more cancer genomes are revealed by this technique, we will gain a greater understanding of how cancer is caused and develops, improving our ability to prevent, treat and cure cancer."

Professor Carlos Caldas, from Cancer Research UK’s Cambridge Research Institute called the research "groundbreaking".

"Like molecular archaeologists, these researchers have dug through layers of genetic information to uncover the history of these patients’ disease.

"What is so new in this study is the researchers have been able to link particular mutations to their cause.

"The hope and excitement for the future is that we will eventually have detailed picture of how different cancers develop, and ultimately how better to treat and prevent them."

Source: BBC News

Post menopausal women who take anti-depressants face a small - but statistically significant - increased risk of a stroke, research suggests.

The US study was based on 136,293 women aged 50 to 79, who were followed for an average of six years.

Anti-depressant users were 45% more likely to have a stroke than women not taking the drugs.

The data, published in Archives of Internal Medicine, is taken from the Women’s Health Initiative Study.

In particular the number of children killed or seriously injured has been halved over the past 15 years, the British Medical Journal reported.

The London School of Hygiene and Tropical Medicine study estimates 20mph zones have the potential to prevent up to 700 casualties in London alone.

At 20mph, it is estimated only one in 40 pedestrians is killed in a crash.

This compares with a one in five chance for someone hit at 30mph.

“ This evidence supports the rationale for 20mph zones not just in major cities in Britain, but also in similar metropolitan areas elsewhere ”
Study leader, Chris Grundy

The researchers compared data on road collisions, injuries and deaths in London between 1986 and 2006, with speed limits on roads.

After adjusting for a general reduction in road injuries in recent years, they found that the introduction of 20mph zones were associated with a 41.9% drop in casualties.

The greatest reduction was seen in children under the age of 11 years and in the numbers of all ages killed or seriously injured.

Cyclist injuries fell by 17% once 20mph zones came in, and injuries in pedestrians have been cut by almost a third.

There was also no evidence of a higher rate of casualties in areas bordering the 20mph zones, as in areas adjacent to 20mph zones casualties fell by an average of 8%.

Expansion

Study leader Dr Chris Grundy, a lecturer at the London School of Hygiene and Tropical Medicine, said: "This evidence supports the rationale for 20mph zones, not just in major cities in Britain, but also in similar metropolitan areas elsewhere.

"Indeed, even within London, there is a case for extending the currently limited provision of such zones to other high casualty roads."

HAVE YOUR SAY The drivers who disobeyed the 30mph limit will still disobey the 20mph limit Asim, Bradford

He estimated that 20mph zones in London save 200 lives a year, but this could increase to 700 if plans to extend the zones were implemented.

A spokesman for the Department of Transport said the study backed their own research showing that 20mph zones help to reduce accidents and casualties.

"Our road safety strategy consultation recommends that local authorities introduce, over time, 20mph zones or limits into streets around schools, and which are primarily residential in nature, to protect pedestrians and cyclists.

"This will save lives and make people feel more secure in walking and cycling on those streets."

Kevin Clinton, head of road safety at the Royal Society for the Prevention of Accidents, said: "This research confirms that one of the most effective ways of protecting vulnerable road users, especially children, is the introduction of 20mph zones.

"It lends weight to calls for an expansion of 20mph zones, which RoSPA strongly supports and which we hope will become a crucial part of the new road safety strategy for the next 10 years."

Source: BBC News

The disease - a cancer of developing nervous system tissue - is most often found in under-fives and accounts for about a sixth of child cancer deaths.

The European trial builds on early promising results from a US study which found immunotherapy improved the chances of survival from the disease.

Cancer Research UK is funding the trial for 160 UK children over four years.

The cancer develops in specialised nerve cells, called neural crest cells.

These primitive cells are involved in the development of the nervous system and other tissues.
CASE STUDY
Sophie McGuire developed symptoms soon after her second birthday in January this year. Initially doctors thought she had a virus affecting her hips, but her condition deteriorated - she was constantly tired and lost a lot of weight. After extensive tests she was diagnosed with advanced neuroblastoma in April. Scans showed she had cancerous tissue wrapped around the arteries leading to her kidneys, and secondary cancer in her arms, legs and pelvis.

She has had regular chemotherapy and blood transfusions at London’s Great Ormond Street Hospital.

At one point she required intensive care after her lungs became dangerously inflamed, and she was unable to eat anything by mouth for several months.

Her father James said: "We are obviously pleased that this new part of the trial has been launched and Sophie will be part of it."

Tumours often develop in one of the adrenal glands but may also form in nerve tissues in the neck, chest, abdomen, or pelvis.

Overall, six out of 10 children are successfully treated through treatment such as surgery and chemotherapy - but the prognosis is not as good for children with advanced forms of the disease.

Doctors estimate about 40 children per year in the UK would be eligible for - and potentially benefit from - the new treatment.

It works by hunting down neuroblastoma cells that have survived conventional treatment and attaching antibodies to specific molecules on their surface.

These antibodies then mobilise the body’s immune defences to attack and destroy the cells.

The UK arm of the trial - part of a larger European one, and funded by the charity Cancer Research UK - will run in all 20 childhood cancer clinical trial centres across the UK, recruiting 160 children over the next four years.

Lead researcher Dr Penelope Brock, a consultant paediatric oncologist at Great Ormond Street Hospital, said: "Early results from the US trial found that children who received the immunotherapy treatment had less chance of the disease coming back two years later, compared with the patients who did not receive the immunotherapy.

"We need to build on these results and devise better immunotherapy approaches that improve survival further."

The UK trial - in which all eligible children will receive immunotherapy - will attempt to reduce the severe side effects seen in the US study.

James McGuire from Harrow Weald in North London, has a two-year-old daughter, Sophie, who will take part in the trial.

He said: "Based on the positive outcomes from the earlier trial, I am hopeful that this treatment will play a critical role in saving Sophie’s life."

This trial will be open to high-risk neuroblastoma patients who are nine months from diagnosis and within four months of the last round of aggressive treatment to control the tumour.

Source: BBC News

Children who battle and survive cancer run a higher risk of heart problems and must be closely screened, say experts.

Aggressive cancer treatments like chemotherapy and radiotherapy can harm the heart, multiplying the patient’s death risk by seven, data shows.

UK guidelines recommend routine heart trace checks every five years.

But many survivors currently receive no follow-up, US doctors, who studied data on 14,000 childhood cancer survivors, say in an article published at bmj.com.

Work in Proceedings of the National Academy of Science shows social isolation tips the odds in favour of aggressive cancer growth.

Rodents kept alone developed more tumours - and tumours of a more deadly type - than rats living as a group.

The researchers put it down to stress and say the same may well be true in humans.

Cancer experts say more work is needed to prove such a link in people.

Lead investigator Gretchen Hermes, of Yale University, said: "There is growing interest in relationships between the environment, emotion and disease.

"This study offers insight into how the social world gets under the skin."

Stress

Doctors already know that cancer patients who are depressed tend to fare worse in terms of survival.
“ It’s possible that stressful situations could indirectly affect the risk of cancer by making people more likely to take up unhealthy behaviours that increase their risk ”
Ed Yong Cancer Research UK

And previous research has suggested that social support can improve health outcomes for patients with breast cancer.

In the latest study, the researchers found that isolation and stress trebled the risk of breast cancer in the naturally sociable Norway rats.

Outcast rodents developed 84 times the amount of tumours as those living in tight-knit social groups, and the tumours also proved to be more aggressive.

The isolated mammals also had higher levels of the stress hormone corticosterone and took longer to recover from a stressful situation than fellow Norway rats.

The researchers ultimately hope their work will help cancer patients.

Lifestyle

Co-researcher Martha McClintock, a psychologist at the University of Chicago, said: "We need to use these findings to identify potential targets for intervention to reduce cancer."

Ed Yong, of Cancer Research UK, said: "This study was done in rats.

"Overall, research in humans does not suggest there is a direct link between stress and breast cancer.

"But it’s possible that stressful situations could indirectly affect the risk of cancer by making people more likely to take up unhealthy behaviours that increase their risk, such as overeating, heavy drinking, or smoking."

Source: BBC News

So far five patients have been treated by the team at Baltimore’s University of Maryland School of Medicine.

The US surgeons say the technique offers a vital lifeline to patients with end-stage renal failure who could die waiting for a healthy donor organ.

None of the patients has yet developed cancer urology journal BJUI reports.

Before the transplants took place, the doctors said they had detailed discussions with the patients and the donors about the discovery of the cancer in the donor kidneys so that they were both aware of the risks, including recurrence of the cancer.

“ Diligent follow-up of the donor and recipient is imperative in these cases ”
Head of the surgical team, Dr Michael Phelan
Urologist and head of the surgical team, Dr Michael Phelan, said: "Transplanting a living donor kidney which has been affected by a renal mass is controversial and considered high risk.

"However, the ongoing shortage of organs from deceased donors, and the high risk of dying while waiting for a transplant, prompted five donors and recipients to push ahead with surgery after the small masses were found in the donor kidneys."

Measured risk

The kidneys were removed from the donors, put on ice and taken to the operating rooms for preparation for transplantation.

The surgeons then removed all visible traces of the tumours - five masses ranging from 1cm to 2.3cm in size, three being malignant and two benign - before transplanting them in to the recipients.

One of the recipients has since died, from an unrelated accident.

But the remaining four are well between nine and 41 months on.

Dr Phelan told the Journal of the British Association of Urological Surgeons this was proof that ‘risky’ kidneys could be a viable option for some.

He said: "The current study provides evidence to suggest that kidneys from donors with renal masses offer a minor, yet feasible, solution to the current organ shortage.

"These organs can be transplanted into recipients with limited life-expectancy on haemodialysis after careful removal of the renal masses.

"However, diligent follow-up of the donor and recipient is imperative in these cases."

Keith Rigg, medical advisor for the charity Kidney Research UK, said: "New initiatives to increase the number of life changing transplants are welcomed.

"The results of removing small tumours from kidneys prior to transplantation are encouraging from this small study.

"It is important though that the potential risks and benefits are fully discussed with the donor and recipient, and that the recipient of the kidney is subject to long term close scrutiny, to ensure that any risks in the long term are minimized."

Source: BBC News

Scientists measured smokers’ levels of cotinine, a by-product of nicotine which has been shown to reflect the risk of developing lung cancer.

Waiting until you had eaten breakfast reduced the amount of this chemical.

The team from Penn State College says their study suggests the earlier smokers may need more help to give up.

The reasons for the differing levels were unclear, but are thought likely to reflect a more intense way of smoking among those who light up first thing - as their need may be greater than those who can wait.

More than 250 healthy people who smoked every day were included in the study, which was published in Cancer Epidemiology, Biomarkers and Prevention.

Waking desire

Among smokers who consumed 20 cigarettes each day, cotinine levels varied dramatically - with the top levels nearly 75 times higher than the lowest levels.

“ Not all smokers are the same and approaches to smoking reduction may need to account for individual smoking behaviours such as the intensity and frequency of puffing, cravings, and physiological symptoms ”
Joshua Muscat Report author
The highest levels were seen among those who lit up within 30 minutes of waking - categorised as high dependency.

"These people may require a more intensive intervention than other smokers to help them quit smoking on a sustained or permanent basis," said report author Joshua Muscat, professor of public health at Penn State College of Medicine.

"Not all smokers are the same and approaches to smoking reduction may need to account for individual smoking behaviours such as the intensity and frequency of puffing, cravings, and physiological symptoms."

A spokesperson for the Roy Castle Lung Cancer Foundation welcomed the research, which it said would help further understanding of smoking habits and addiction to tobacco.

"It is however a small study (252 participants), and therefore the findings should be taken with caution, and we are not entirely sure that any major conclusions on the future of smoking cessation can be made from this.

"We concur with the authors that more research is needed in this area." 

Source: BBC News

Scientists working on mice have highlighted a specific gene that, although carried by both sexes, appears to be active only in males.

They believe it allows males to grow bigger bodies - but at the expense of their longevity.

The study, by Tokyo University of Agriculture, appears in the journal Human Reproduction.

“ These are interesting findings but any sex differences in longevity may have more complex explanations than any single gene ”
Professor Kay-Tee Khaw University of Cambridge

Although the study was conducted on mice, the researchers believe it could apply to all mammals - including humans.

They studied mice created with genetic material from two mothers, but no father.

This was achieved by manipulating DNA in mouse eggs so the genes behaved like those in sperm.

The altered genetic material was implanted into the eggs of adult female mice to create embryos.

The resulting offspring, completely free of any genetic material inherited from a male, lived on average a third longer than mice with a normal genetic inheritance.

Better immune function

The mice with two mothers were significantly lighter and smaller at birth.

But they appeared to have better functioning immune systems.

The researchers believe the key is a gene passed on by fathers called Rasgrf1.

Although it passes down to both sexes, it is silenced in females through a process known as imprinting.

Lead researcher Professor Tomohiro Kono said: "We have known for some time that women tend to live longer than men in almost all countries worldwide, and that these sex-related differences in longevity also occur in many other mammalian species.

"However, the reason for this difference was unclear and, in particular, it was not known whether longevity in mammals was controlled by the genome composition of only one or both parents.

"Our results suggested sex differences in longevity originating at the genome level, implying that the sperm genome has a detrimental effect on longevity in mammals.

"The study may give an answer to the fundamental questions: that is, whether longevity in mammals is controlled by the genome composition of only one or both parents, and just maybe, why women are at an advantage over men with regard to lifespan."

In the UK the average lifespan for men is 77.4 and for women 81.6.

The researchers said in nature males tended to concentrate resources on building a large body, because strength and bulk help them fight for mating opportunities with females.

In contrast, females tended to conserve energy for breeding and providing for their offspring.

Dr Allan Pacey, an expert in reproduction at the University of Sheffield, said: "The results of this study are intriguing, and this is a topic that clearly needs further investigation.

"However, I would resist the temptation to fantasise about whether this may one day to a medical treatment to extend life through gene manipulation.

"I think humans have a good innings on the whole and we should try and be content with that."

Professor Kay-Tee Khaw, an expert in ageing at the University of Cambridge, said the findings were not necessarily applicable to humans.

She said: "These are interesting findings but I think any sex differences in longevity - which in humans have changed over time and differ in different environments - may have more complex explanations than any single gene."

Source: BBC News