Wednesday , September 28 2022

Some Common Signs of Aging Could Actually Be Due to a Preventable Genetic Disorder



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Haemochromatosis – an 'iron overload disorder' – is considered to be a relatively rare condition caused by a surprisingly common gene. But new research suggests that we could have mistaken its true impact for common signs of aging.

If true, this would mean that we already have ways to treat and prevent health conditions we currently accept as an inevitable part of aging.

A study led by researchers from the University of Exeter in the UK compared the health of individuals aged 40 to 70 who had a gene associated with a hereditary form of haemochromatosis with those who did not.

All but just a few percent of individuals who have the iron overload disorder also have two copies the gene p.C282Y.

It's primarily responsible for a gradual build-up of iron in the body's tissues, leading to a variety of health complaints later in life that include joint and abdominal pain, fatigue, and weight loss.

Since menstruation tends to reduce iron levels in the body, the condition is not as common among women as it is among men.

While most people diagnosed with haemochromatosis have inherited this gene, possessing p.C282Y does not guarantee you will experience any symptoms.

In fact, one in-depth study conducted in 2002 concluded that fewer than one percent of individuals with two copies of this troublesome gene actually developed any clinically noticeable signs.

Since the gene can be found in up to 15 percent of European populations – with as many as 1 in 150 individuals inheriting two copies – it seems fortunate that the disease itself is no longer prevalent.

But researchers have now questioned whether that prevalence is merely the tip of an iceberg.

To find out, they found almost 3,000 individuals with two copies of p.C282Y and compared almost a decade's worth of their medical records with hundreds of thousands of volunteers who lacked the gene.

The team looked beyond haemochromatosis diagnosis, also searching for hints of other health problems including osteoarthritis, diabetes, and liver disease.

The results were amazing. Far from 1 in 100 diagnoses, just under 1 in 10 women were determined to have haemochromatosis. Among men, this number was a mind-blowing 1 in 5.

Mortality rates were also higher among those with p.C282Y, a higher proportion of whom died as a result of liver disease.

Astonishingly, roughly one third of individuals with both copies of the gene had some form of complaint related, compared to around 15 percent of those without either copy.

This all implies that we may have been overlooking the gene's true impact, dismissing its handiwork as part of our encroaching twilight.

If there's a silver lining to this discovery, it's that we can successfully manage the chronic symptoms of haemochromatosis by periodically removing a volume of blood, and the excess iron with it.

Identifying who is at risk early could mean we can reduce the risks of developing arthritis, lethargy, or potentially liver disease later in life simply by donating blood a little more often.

Of course, more research is always welcome, and while we can always encourage those who can give blood to do so whenever possible, we are not advocating any kind of medical treatment without discussing it with a medical practitioner.

Questions on what we should accept as human versus treatable illness are a common part of medical debate. For example, for generations osteoporosis was seen as an inevitable degeneration of bones that comes with age.

Similarly, the aches and pains of our senior years may be reduced, if not prevented, if they can be associated with variations in our genes.

This research was published in the BMJ.

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