Stronger in old age: Stem cell research paves way for muscle-building medication

It could in the future be possible to take medication that will allow you to build muscle, even when you are in old age.

This is due to the findings of research at the Karolinska Institutet in Sweden, which found that large, and wholly unexpected, amounts of mutations in muscle stem cells blocks their ability to regenerate cells.

“What is most surprising is the high number of mutations. We have seen how a healthy 70-year-old has accumulated more than 1,000 mutations in each stem cell in the muscle, and that these mutations are not random but there are certain regions that are better protected,” said Maria Eriksson, professor at the Department of Biosciences and Nutrition at Karolinska Institutet.

With this knowledge, researchers could develop therapies that would encourage such regeneration, and so allow older people to rebuild lost muscle.

“We can demonstrate that this protection diminishes the older you become, indicating an impairment in the cell’s capacity to repair their DNA. And this is something we should be able to influence with new drugs,” explained Eriksson.

The landmark research, which is published today in the journal Nature Communications, involved the use of single stem cells, which were cultivated to provide enough DNA for whole genome sequencing – a medical first for this part of the body.

“We achieved this in the skeletal muscle tissue, which is absolutely unique. We have also found that there is very little overlap of mutations, despite the cells being located close to each other, representing an extremely complex mutational burden,” said study first author Irene Franco, a postdoc in Eriksson’s research group.

While a significant step, the research is now being expanded to look at whether exercise affects the number of mutations – a potentially vital factor in understand why and how these mutations occur.

“We aim to discover whether it is possible to individually influence the burden of mutations. Our results may be beneficial for the development of exercise programmes, particularly those designed for an ageing population,” said Eriksson.

The research is one of a host of projects being conducted across the world that have potential impacts on ageing, an area that was long ignored by much of the scientific community, but is now garnering increased support.

If many – or even a fair minority – of these findings eventually become the basis of therapeutics, it could be transformative for old age in the future, allowing people to remain healthier for far later in life and potentially even leading to longer life expectancies.

Genetic rights are a civil right: Legal expert urges overhaul of right to genomic data access

Access to your genetic data is a civil right that needs to be better protected in US law, according to a legal professor assessing the US’ genetic rights protection law a decade after it was introduced.

Americans have enjoyed some protection of their access to their own genomic data, as a result of the 2008 Genetic Information Nondiscrimination Act (GINA), but a commentary published today in the American Journal of Human Genetics argues that the law needs a significant overhaul to fit the reality of 2018.

Since the law passed, consumer genetic testing services, such as those offered by 23andMe and Ancestry DNA, have grown dramatically in number and ubiquity and yet are not covered by the current laws. Meanwhile, medical facilities that are covered have varying interpretations of existing legislation, which can result in requests for access to genetic test results – a civil right – being blocked.

The commentary’s author, Barbara J Evans, alumnae college professor of law and professor of electrical and computer engineering at the University of Houston, argues that while the law was established with positive motives, it fails to meet the reality of current genetic data use, focusing on non-issues when ignoring significant problems.

“Scholars poke fun at GINA for ‘solving’ a problem that, as far as the evidence shows, never actually existed: genetic discrimination in employment and health insurance,” she says. “Meanwhile, GINA declined to tackle problems that cause real headaches for people who are about to undergo genetic testing, such as whether the results might make it impossible to buy long-term care insurance.”

Genetic testing services need to be taken into account in an update to the law, argues Evans. Image courtesy of 23andMe

The right for individuals to access their own genetic data is an area of GINA that Evans argues needs particular attention. When the law was written, it was worded with the assumption that the organisations handling genetic data would be medical facilities protected by existing HIPAA (Health Insurance Portability and Accountability Act) legislation, which was amended to include this right to access.

However in the last few years companies not subject to HIPAA offering genetic testing services have exploded in number and popularity.

“You only have an access right if the party that stores your data happens to be HIPAA-regulated. Most direct-to-consumer testing and cloud data storage services are not HIPAA-regulated, so you may not have an access right if your data are there,” says Evans.

Even when companies are bound by HIPAA, the way the law intersects with other legislation around safety has led to some facilities blocking patients from accessing their genetic data. This is because the significant safety focus has led to regulators such as the US Food and Drug Administration and the Centers for Medicare and Medicaid Services encouraging labs to block people’s access to their genetic data on the grounds that consumers may misinterpret their genetic data and pursue needless or even dangerous treatments or behaviours as a result.

“You have one regulator telling research labs to provide access, to protect civil rights. Other regulators try to block access, citing safety concerns,” she says. “Labs are caught in the middle and many Americans are being deprived of a federally protected civil right to see their data.”

With genetic data set to be available in ever greater numbers and be used in more parts of our lives, it is important that our rights to access it are ensured.

“Having access to your own genomic data also lets you exercise important constitutional rights, such as your First Amendment rights to assemble and petition the government,” says Evans.

“You can go on social media and assemble groups of people with genes like yours and lobby Congress to spend more research dollars studying how those genes affect your health.

“Like the right to vote, access to one’s own genomic data is a foundational civil right that empowers people to protect all their other civil rights.”