Scientists identify treatable gene disorder linked to age-related health issues
While some people feel more tired, experience joint pain or develop serious health conditions in older age, researchers believe many signs of ageing may actually be linked to a common and treatable gene disorder.
The new research, published in the BMJ Journal, identified a gene disorder linked with higher levels of disease in older people. When people have two copies of a faulty gene known as HFE C282Y, they develop a build-up of iron in the body that can damage vital organs such as the liver and heart.
Interestingly, this build-up of iron known as haemochromatosis can be prevented if detected early and is usually treated by regularly removing iron-rich blood from the system. Typical symptoms of haemochromatosis such as feeling tired or experiencing joint pain are often dismissed as normal signs of the ageing process.
To better understand the impact of the disorder, researchers compared levels of illness and death among people with and without the gene mutation. The study of 2,890 people aged between 40 and 70 analysed data from the UK Biobank.
Participants were monitored for an average of seven years and researchers discovered a haemochromatosis diagnosis in 21.7 per cent of men and 9.8 per cent of women with the HFEC282Y gene mutation. The study also found at the end of the follow-up period, one in five men and one in 10 women with the gene mutation had developed liver disease, diabetes, osteoarthritis or rheumatoid arthritis, compared with people without the mutation.
Researchers also estimated 1.6 per cent of all hip replacements and close to 6 per cent of liver cancers that occurred in male participants occurred in those with the HFEC282Y gene mutation. While it was an observational study, researchers said it was the largest study of its kind and that screening and improving early detection of the HFEC282Y gene could help prevent unnecessary disease in older age.
It follows a 2018 clinical trial which has found an experimental anti-ageing drug may have the potential to rejuvenate immune systems and protect older people from fatal respiratory infections.
The findings, published in the journal of Science Translational Medicine, found people over the age of 65 involved in the trail who received a combination therapy of two anti-ageing compounds weren’t as likely as people on placebos to experience infection. People on the mTOR inhibitors were half as likely to report infections and also increased participants’ responses to the flu vaccine.
While the ageing process undoubtedly impacts our bodies and organs as we get older, scientists are praising a new clinical trial which has found an experimental anti-ageing drug may have the potential to rejuvenate immune systems and protect older people from fatal respiratory infections.
The findings, published in the journal of Science Translational Medicine, found people over the age of 65 involved in the trail who received a combination therapy of two anti-ageing compounds weren’t as likely as people on placebos to experience infection. In fact, people on the therapy were half as likely to report them.
Known as mTOR inhibitors, the experimental medication also increased participants’ responses to the flu vaccine with an increase of 20 per cent more flu-fighting antibodies in the blood in the month following the flu injection. There are now hopes researchers will be able to develop new drugs and medication to assist when it comes to preventing the ageing process.
“Immune function was just one of the things that got better,” researcher Joan Mannick explained to The Guardian.
The medication was effective because it blocked a series of events in the body that typically begin with mechanistic target of rapamycin (mTOR). mTOR are also known as a group of proteins that are a huge part of the ageing process. Previous tests on mice have revealed mTOR inhibitors have the potential to not only revitalise the organs and immune systems, but also increase lifespan.
The six-week trial analysed two separate mTOR inhibitors, with 264 participants receiving either one mTOR inhibitor, the two inhibitors, or a placebo. Each group was studied for a year so researchers could analyse the level of respiratory infections picked up and immune system responses.
People on both inhibitors reported 1.49 infections a year, while the placebo group reordered 2.41. Researchers also noted immune systems become weaker in older people, thus increasing the risk of infection. They also don’t respond as well to vaccinations. This means medication that can boost immune systems in the older population could prove beneficial when it comes to protecting people against potentially deadly infections.
Researchers will now investigate if the trial medication is more effective in some groups over others. They will particularly be looking at people aged 85 and over and how the medication can assist with health conditions including heart failure, diabetes and asthma.
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