NHS Choices

Gene breakthrough promises 'bespoke' breast cancer treatment

NHS Choices - Behind the Headlines - Tue, 03/05/2016 - 14:30

"Breast cancer treatment breakthrough after 'milestone' genetic discovery," says The Independent, about widely reported research investigating genetic mutations in people with breast cancer.

The researchers took samples of cancer cells from 560 people with breast cancer (556 women and four men). They compared the DNA from the cancerous cells with DNA from normal cells.

They found 93 genes that had mutated in the cancer cells and concluded that they could have caused normal tissue to become cancerous. They also found 12 genetic patterns linked with breast cancer.

These findings have been called "groundbreaking" in the media. While they are certainly interesting, it's important to remember that, even if the gene is present, it doesn't mean the person will get cancer, just that their risk is increased.

It's hoped that the study will lead to more personalised treatments for breast cancer, similar to drugs used for other DNA mutations that are already known.

If there is a history of breast cancer in your family, you may be worried about your own risk. It's best to visit your GP, who can assess you and refer you to a genetic clinic if necessary.

The study was carried out by researchers from a number of institutions, including the Wellcome Trust Sanger Institute, East Anglian Medical Genetics Service, and the Cambridge University Hospitals NHS Foundation Trust.

Funding for the study was provided by multiple organisations, including the European Community's Seventh Framework Programme, the Wellcome Trust and the Institut National du Cancer (INCa) in France. The ICGC Asian Breast Cancer Project was funded through a grant from the Korean Health Technology R&D Project, Ministry of Health and Welfare, Republic of Korea.

The study was published in the peer-reviewed scientific journal Nature.

These findings have been reported accurately in the media. It's good to see explanations stating that, while this may be an important discovery, it may still be decades before targeted treatments become available. One of the researchers told the media: "Overall, I'm optimistic, but it's a tempered optimism".

Links To The Headlines

Breast cancer treatment breakthrough after 'milestone' gene discovery. Independent, May 3 2016

Breast cancer breakthrough: Hope for new treatments after scientists uncover detailed picture of genetic events that cause it. Daily Mail, May 3 2016

Breast cancer: Scientists hail 'milestone' genetic find. BBC News, May 3 2016

Study points towards personalised treatment for breast cancer. The Guardian, May 3 2016

Links To Science

Nik-Zainal S, Davies H, Staaf J, et al. Landscape of somatic mutations in 560 breast cancer whole-genome sequences. Nature. Published online May 2 2016

Categories: NHS Choices

Does 'ginger gene' offer key to younger looking skin?

NHS Choices - Behind the Headlines - Fri, 29/04/2016 - 14:30

"'Secret' of youthful looks in ginger gene," BBC News reports. Dutch researchers have found evidence that a gene associated with red hair – the MC1R gene – may also have an impact on how young or old a person looks for their age.

This study examined the facial appearance and genetics of thousands of Dutch elderly adults. The researchers found four DNA sequence variants in the MC1R gene were linked to perceived facial age. These variants were already known to be associated with red hair, pale skin and sun spots.

People who carried two copies of these variants looked almost two years older than people who didn't carry any. Those who carried a single copy looked about one year older.

The researchers hope their findings may spark new leads into understanding the biological basis of youthful looks, and maybe even lead to new anti-ageing treatments.

However, this is some way off. There are likely to be various other genetic factors associated with ageing.

Of course, our genetics don't provide the whole answer to youth and vitality. Our lifestyle and environment – such as whether we drink or smoke and how much UV exposure we get – have a massive influence.

All of these factors can cause premature ageing of the skin. Conversely, a good diet and regular exercise can help boost the appearance of your skin.

We can't change our genetics, but we can change our lifestyle to give us the best chance of a healthy and happy life.

Read more about how to look after your skin

Where did the story come from?

The study was carried out by researchers from the Beijing Institute of Genomics in China, Erasmus MC University Medical Center and Leiden University Medical Center in the Netherlands, and the University of Leeds.

Funding was provided by the Erasmus University Medical Center Rotterdam, Unilever, and the Netherlands Genomics Initiative and the Netherlands Organization of Scientific Research.

The study was published in the peer-reviewed journal Current Biology on an open access basis, so it is free for you to read online.

Three of the authors work for Unilever. The study says: "Although no products were tested, this work could potentially promote the use of anti-ageing products and lead to financial gain for Unilever."

Some sections of the media got themselves into a right muddle regarding the implications of the research, as several headlines imply that redheads look two years younger. This isn't the finding of this research.

The study examined four variants in the MC1R gene that are known to be associated with red hair, pale skin and sun spots.

It found people who carried two copies of any of these four variants looked two years older. So, if anything, this seems to imply that the "ginger" variants were associated with looking older, not younger.

But it's not as simple as this. The variants were lumped together, so you can't assess the effect of any particular variant combination, therefore muddying any specific links.

The researchers also don't make any explicit links with hair colour or skin colour – and argue age perception was independent of these variables.  

Why the MC1R gene can have an influence on skin appearance therefore remains a mystery.

What kind of research was this?

This genome-wide association study involved a large cohort of Dutch people of European descent. It aimed to identify genes linked to perceptions of facial ageing and wrinkles.

As the researchers say, the desire to look young for your age is a long-standing one, which is likely to be due to its associations with health and fertility.

However, the biological basis of why people look older or younger for their age isn't understood. Understanding this could potentially be a step towards the development of new anti-ageing therapies.

What did the research involve?

The first part of the study involved participants of the Rotterdam study – an ongoing follow-up cohort set up in 1990 that has included 2,693 elderly Dutch Europeans.

Researchers of all ages, mainly British, looked at front and side photos of their faces and guessed their age to fit within five-year age bands.

Facial features such as wrinkles and pigment marks were measured objectively using image analysis software.

The researchers then analysed participants' entire DNA, looking at more than 8 million single letter variants – single nucleotide polymorphisms, or SNPs – in the DNA sequence to identify those that had the strongest link with perceived facial age. 

The researchers then verified their findings in two other cohorts: the Leiden Longevity Study, including 599 Dutch Europeans, and the TwinsUK Study, including 1,173 female Europeans.

What were the basic results?

In the Rotterdam cohort, the researchers identified several DNA variants on the MC1R gene that were significantly associated with perceived age, after adjustment for age, sex and wrinkles.

Four of these MC1R DNA variants were highlighted as markers for further study, given that they have been previously associated with red hair, pale skin and age spots.

Compared with people who did not carry any of these four variants, people who carried a single copy of one of them looked about one year older, while people who carried two copies of any of the ageing variants looked about two years older. The effect of these variants seemed to be greater in men than women.

In the Leiden and Twin studies, they confirmed the association with these four MC1R DNA variants.

The link seemed to be consistent regardless of sun exposure and skin colour, but was weaker for darker skin tones.   

How did the researchers interpret the results?

The researchers concluded that, "A role for MC1R in youthful looks independent of its known melanin [pigment] synthesis function is suggested.

"Our study uncovers the first genetic evidence explaining why some people look older for their age and provides new leads for further investigating the biological basis of how old or young people look."


As the researchers rightly say, the quest for prolonged youth and vitality is a longstanding one. This study uncovers another possible genetic reason why some people of the same age may look slightly older or younger than each other. 

The researchers hope their findings may spark new leads into understanding the biological basis of youthful looks, and maybe even one day lead to new anti-ageing treatments.

The findings will undoubtedly provide a valuable contribution to the science of ageing, but we shouldn't assume that DNA sequence variants in the MC1R gene give the whole answer.

There are likely to be many other unexplored genetic variants that have a link with ageing, maybe with greater or less of an effect than the variants studied here.

Of course, our genetics don't give the whole answer to youth and vitality. Our lifestyle and environment – such as our diet, the amount of exercise we take, whether we drink or smoke, and how much UV exposure we give our skin – have a massive influence.

Another factor to consider is that this study was only looking at perceived ageing on account of how the person's face looked. Looking more youthful may not necessarily correlate with good physical health and fertility.

If new anti-ageing treatments are developed, they will be some way down the line, and one thing we can't change is our genetics.

What we can change, though, is our lifestyle to give us the best chance of a healthy and happy life.

Find out how becoming more active can boost both your mental and physical wellbeing – so even if you don't look younger, you could end up feeling younger.   

Links To The Headlines

'Secret' of youthful looks in ginger gene. BBC News, April 29 2016

Gene linked to youthful looks has been discovered, scientists claim. The Guardian, April 28 2016

Ginger gene helps you to look two years younger. The Daily Telegraph, April 29 2016

Secret to 'eternal youth' found in GINGER gene that makes you look two years younger. Daily Mirror, April 28 2016

Secret of looking younger revealed: Half of us have an 'ageing gene' (and it helps redheads look TWO years younger). Mail Online, April 29 2016

Links To Science

Liu Fm Hamer MA, Deelen, J, et al. The MC1R Gene and Youthful Looks. Current Biology. Published online April 28 2016

Categories: NHS Choices

Short bursts of intense exercise 'as good' as endurance training

NHS Choices - Behind the Headlines - Thu, 28/04/2016 - 14:45

"Researchers have found that short bursts of intense exercise produce similar results to traditional longer-duration workouts," the Mail Online reports.

Researchers compared two types of exercise programme over a 12-week period with a control. The two programmes were:

  • a 10-minute "intense" workout, three times a week (referred to as Sprint Interval Training)
  • a 50-minute moderate intensity workout, once a week

At the end of the study, they found similar improvements in reliable fitness markers in both groups, such as the body's response to insulin, peak uptake of oxygen and the functioning of muscle cells. However, it is uncertain that the changes seen would have an effect on cardiovascular disease risk and outcomes in the long term.

The study was also quite small (just 25 young men), and the results ideally need verifying in a larger trial, including a study of wider population groups, such as women and different age groups. The study showed no effect on the men's weight or body mass index (BMI), and did not include information about any adverse effects or risks.

The message that your health may benefit from a 10-minute workout is welcome for anyone who struggles to find time to exercise. However, the researchers warn that very high-intensity exercise is not suitable for everyone.

There are also questions over its safety. Famously, in 2013, the broadcaster and journalist Andrew Marr blamed high-intensity training for triggering his stroke.

If you think you are very unfit, it is probably best to build up your fitness gradually, rather than trying to go all-out straight away.


Where did the story come from?

The study was carried out by researchers from McMaster University in Canada and was funded by the Natural Sciences and Engineering Research Council and McMaster University.

The study was published in the peer-reviewed journal Public Library of Science (PLOS) One on an open access basis, so it is free to read online.

The Mail Online's headline that you only need a "minute of exercise" is a bit disingenuous, as the intervals of high-intensity exercise were within a 10-minute session, which included a warm-up and warm-down, and was done three times a week. However, the full text of the story quickly makes that clear, and reports the study reasonably accurately.


What kind of research was this?

This was a randomised controlled trial (RCT), which is a good way of finding out if a treatment works. Researchers wanted to know whether very short, high-intensity exercise could improve health measures as much as moderate-intensity exercise, when compared to a group who did a "no exercise" programme.


What did the research involve?

Researchers recruited 27 men (two later dropped out) who did little exercise and whose average age was 27. They matched them for similar age, BMI and peak oxygen uptake. They were then randomly assigned to either high-intensity sprint interval training (SIT), traditional moderate-intensity continuous training (MICT), or to a control group which was not given an exercise programme.

They carried out a number of tests on their cardiovascular and metabolic health at the start, during, then again after they finished the 12-week programme. They then compared results of the two exercise groups to the control group.

The tests included:

  • peak oxygen uptake (VO2 peak), measured through a mask worn while cycling on an exercise bike – high oxygen uptake shows the heart and lungs are working efficiently
  • insulin sensitivity index (CS1) measured by monitoring how quickly the body clears glucose from the blood, after it's been infused into a blood vessel – poor insulin sensitivity can lead to type 2 diabetes
  • muscle mitochondrial content, measured by taking a muscle biopsy – mitchondiral content gives an indication of how efficient the muscle is at using energy

Both exercise programmes were carried out using exercise bikes and included a two-minute warm-up and three-minute cool-down, cycling at low intensity. For the SIT programme, men cycled three 20-second bursts of "all out" effort, separated by periods of two minutes of low-intensity cycling, adding up to 10 minutes in total. For the MICT programme, they cycled for 45 minutes at approximately 70% of maximal heart rate, adding up to 50 minutes total.


What were the basic results?

Both exercise groups improved on the three tests, while the control group did not show much difference on any test.

Maximum oxygen uptake improved by about 19% for both exercise groups. Insulin sensitivity improved by 53% for men in the SIT programme and 34% for men in the MICT programme, while the measure of mitochondrial content in muscle cells rose 48% after the SIT programme and 27% after MICT.

None of the men showed much change in their weight or BMI, although body fat percentage decreased for men on either exercise programme.


How did the researchers interpret the results?

The researchers said their study showed that a weekly exercise programme of 30 minutes, including three minutes of intense intermittent exercise, was as effective as 150 minutes a week of moderate-intensity, continuous training on three measures of cardiovascular and metabolic health.

"Considering that a large number of individuals do not meet the current physical activity recommendations, there is value in exploring the potential benefits of exercise strategies that involve reduced time commitment," they say. However, they warn that, "this type of exercise requires a very high level of motivation and is clearly not suited for everyone."



The idea that a 10-minute workout could have the same benefits as spending 45 minutes in the gym is tempting. The researchers found it may improve specific markers of health, in one group of young men.

However, this is a small study in a specific population, and we don't know whether it would have comparable effects in older people or women. Also, we don't know the long-term effects of this type of training programme on people's health.

Studies that look at the effects of an intervention, whether it's exercise, diet or medicine, on health measures such as insulin resistance and oxygen uptake, can only give us a short-term, partial picture. What we really want to know is whether an intervention will reduce your chances of having a heart attack or stroke, or of getting diabetes, or dying earlier. Unfortunately, that information can only come from very long-term studies, which are expensive.

One gap in the study is assessment of safety or negative effects of this type of exercise. High-intensity exercise has been linked in the media to the risk of stroke, especially after broadcaster Andrew Marr suffered a stroke shortly after completing an intense session of exercise.

This study doesn't report any adverse effects, nor does it address safety issues. It is probably too small and of too short a duration to be able to detect any. Ideally, some comparison of the risks of strokes or heart attacks with different types of exercise would be needed. However, this would require a large trial and with long enough duration to identify differences. 

There's no doubt that most of us need to do more exercise than we do, and that exercise has many health benefits. If you're concerned about the safety of a new exercise programme, it's best to talk to your doctor. You might need to start slowly and build up the amount and intensity of exercise you do, especially if you already have a medical condition. 

Government guidelines recommend that adults in the UK should do at least 150 minutes a week of moderate-intensity exercise, or 75 minutes of vigorous exercise, as well as exercise to strengthen muscles. Read more about health and fitness.

Links To The Headlines

Is a MINUTE of exercise all you need? Researchers find 60 seconds of hard work in the gym can be as beneficial as a 45 minute endurance session. Mail Online, April 28 2016

Links To Science

Gillen JA, Martin BJ, MacInnis MJ, et al. Twelve Weeks of Sprint Interval Training Improves Indices of Cardiometabolic Health Similar to Traditional Endurance Training despite a Five-Fold Lower Exercise Volume and Time Commitment. PLOS One. Published online April 26 2016

Categories: NHS Choices

Yoga 'probably good for asthma symptoms and quality of life'

NHS Choices - Behind the Headlines - Thu, 28/04/2016 - 13:05

"Yoga could help asthma sufferers, research finds," reports The Independent.

A major review of existing data found there is "moderate-quality evidence" that yoga improves both symptoms and reported quality of life in people with asthma.

Yoga is an ancient form of exercise that focuses on strength, flexibility and breathing to boost physical and mental wellbeing.

Hong Kong-based researchers reviewed previously published data to see if yoga could improve symptoms and quality of life for people with asthma, compared with usual care or a dummy therapy.

Data from 1,048 people who took part in 15 randomised controlled trials (RCTs) was analysed. The researchers found small improvements for quality of life and symptoms, and a reduction in asthma medication use. However, the only meaningful clinical difference was for quality of life.

The review was well designed, but reviews are only as good as the studies they include – there was a high risk of bias in many studies.

There is also no comparison with other forms of exercise that could be equally effective in improving quality of life for people with asthma.

Still, one of the positives of yoga is that, provided you train with a properly qualified instructor, it is relatively risk-free and does not usually have any side effects or complications.

Read more advice about getting started with yoga

Where did the story come from?

The study was carried out by researchers from the Cochrane Collaboration and was funded by the National Institute for Health Research. 

It was published online via the Cochrane Library in the peer-reviewed Cochrane Databases of Systematic Reviews. The Cochrane Library is a non-profit organisation, so, like all their research, the review is open access and can be read for free online.

This story has been reported relatively accurately in the UK media, with a clear message that the findings are not entirely reliable because of the inclusion of flawed studies. We also don't know whether yoga has any negative effects, if any.

However, the Daily Mail's headline that yoga could help people with asthma "get their breath back" and reduce the risk of asthma attacks is rather misleading – this is not what this review concluded.

There was also some inaccuracy with The Independent's story, which incorrectly stated that participants were aged between six months and 23 years old – this was actually how long people had asthma for. We're not sure how you could get a six-month-old baby to start learning yoga.  

What kind of research was this?

This systematic review aimed to assess the effect of yoga in people with asthma.

A review like this combines data from individual studies to form conclusions about the current state of the evidence on the effectiveness and safety of an intervention.

Caution should always be taken with the results, however, as a systematic review is only as reliable as the studies included in the analysis. 

What did the research involve?

A comprehensive search of medical databases, trial registries, and hand-searching of relevant journals and meeting abstracts was carried out to identify studies for inclusion in the review.

The researchers decided to only include RCTs that compared yoga with usual care, no intervention, or a dummy intervention – a "sham" treatment.

They measured the following outcomes:

  • quality of life
  • asthma symptom score
  • asthma control
  • lung function measures
  • asthma medication usage
  • adverse events

After relevant studies were chosen, data was extracted on the characteristics of participants, interventions, methodology, and outcomes. Outcome data was combined where appropriate and analysed using statistical methods.  

What were the basic results?

Fifteen trials were included in the study, with a total of 1,048 participants. Participants mostly had mild to moderate asthma for a range of 6 months to more than 23 years.

The quality of the studies included was assessed as ranging from very low to moderate.

Analysis found some evidence that yoga may improve outcomes in people with asthma compared with usual care or a dummy intervention:

  • quality of life – mean score difference on the seven-point scale of the Asthma Quality of Life Questionnaire (AQLQ) 0.57 units (95% confidence interval [CI] 0.37 to 0.77); 0.5 units is considered clinically meaningful
  • improve symptoms – standardised mean difference 0.37, 95% CI 0.09 to 0.65; this is equivalent to a small effect
  • reduce medication usage – relative risk 5.35, 95% CI 1.29 to 22.11; the wide range of this confidence interval casts the reliability of the result into doubt

To put these findings into context, the change in quality of life had a minimal clinically important difference, while yoga had no clinical benefit for symptoms.

Yoga did not improve lung function during the course of the study and there were no serious side effects associated with the practice, but there was limited data on this outcome.  

How did the researchers interpret the results?

The researchers concluded that, "We found moderate-quality evidence that yoga probably leads to small improvements in quality of life and symptoms in people with asthma.

"There is more uncertainty about potential adverse effects of yoga and its impact on lung function and medication usage.

"RCTs with a large sample size and high methodological and reporting quality are needed to confirm the effects of yoga for asthma."


This well-conducted systematic review aimed to assess whether yoga could improve outcomes for people with asthma when compared with usual care or dummy therapy.

Using statistical methods, small improvements were found for quality of life, symptoms, and a reduction in medication use.

However, the only effect that could make a meaningful difference for someone is the small benefit seen for quality of life.

The review itself was well designed. Efforts were made by the researchers to avoid combining studies that differed significantly in their design and methods.

However, this study did have some limitations:

  • The studies included were of very low to moderate quality, and many were small in sample size, which has an impact on the reliability of the findings.
  • The studies varied widely in their described yoga interventions and additional drug therapy.
  • Some of the analyses included small numbers of participants and the confidence intervals were therefore wide, which reduces the reliability of the estimate.
  • Data on some outcomes, such as unwanted side effects, was limited.
  • Most of the studies included those with mild to moderate asthma, so yoga may not relieve symptoms in those that need it the most.

This review does not produce conclusive evidence that yoga would be beneficial to people with asthma, and any negative effects were not investigated.

The main thing it found was that yoga may improve quality of life – however, this could be the case if you take part in many types of physical activity, not just yoga. There was no comparison with other forms of exercise.

If you have asthma, there is usually no reason why you should have a restricted life. There are several things you can do to keep asthma under control:

  • make sure to take all medicine as prescribed
  • attend regular reviews
  • understand your symptoms – know when to take your inhaler or call for emergency help
  • keep away from known triggers, such as animal fur and cigarette smoke

Read more lifestyle advice about how to live better with asthma.

Links To The Headlines

Yoga could help asthma sufferers, research finds. The Independent, April 27 2016

Can yoga really help to fight asthma? Daily Mirror, April 27 2016

Yoga could help asthma sufferers get their breath back: Exercises found to decrease chance of attacks by relaxing muscles in the airways and anxiety that can cause them. Daily Mail, April 27 2016

Links To Science

Yang Z, Zhong H, Mao C, et al. Yoga for asthma. Cochrane Database of Systematic Reviews. Published online April 27 2016

Categories: NHS Choices