Tuesday , January 31 2023

Some common signs of aging may be, in fact, due to a preventive genetic disorder


Hemochromatosis – a "iron overload" disorder – is considered to be a relatively rare condition caused by a surprisingly common gene. But new research suggests that we may be confronted with its real impact on common signs of aging.

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

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

All but only a few percent of people with iron overload disorder also have two copies of the p.C282Y gene.

He is primarily responsible for the gradual formation of iron in the body's tissues, resulting in a variety of later life-related health complaints including joint and abdominal pain, fatigue and weight loss.

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

While most people diagnosed with hemochromatosis have inherited this gene, having p.C282Y, it does not guarantee that you will have symptoms.

In fact, an in-depth study conducted in 2002 concluded that less than 1% of people with two copies of this troublesome genome actually develop clinically visible signs.

Because the gene can be found in up to 15% of the European population – with 1 in 150 people inheriting two copies – it seems that the disease itself is not widespread.

But scientists have asked if this prevalence is just the tip of an iceberg.

To find out, they found nearly 3000 people with two copies of p.C282Y and compared their medical records for nearly ten years with hundreds of thousands of volunteers who did not have the gene.

The team looked beyond the diagnosis of hemochromatosis, also looking for suggestions about other health issues, including osteoarthritis, diabetes and liver disease.

The results were surprising. Far from a diagnosis of 1 to 100, just under 1 in 10 women were determined to have haemochromatosis. Among men, this number was one from 1 to 5.

Mortality rates were also higher among those with p.C282Y, of which a higher proportion died due to liver disease.

Surprisingly, about one third of individuals with both copies of the gene had some form of related complaint, compared with about 15% of those without children.

All this implies that we could overlook the true impact of the gene, rejecting our work as an integral part of our twilight.

If there is a silver lining in this discovery, it is that we can successfully manage chronic hemochromatosis symptoms by periodically removing a volume of blood and excess iron with it.

Identifying people at risk early may mean reducing the risk of arthritis, lethargy, or possible liver disease later in life simply by donating blood more often.

Of course, more research is always welcome, and while we can always encourage those who can give blood to do so when possible, we do not support any kind of medical treatment without talking to a qualified specialist.

Questions about what we should accept as human fate for treatable disease are a common part of medical debates. For example, for generations, osteoporosis has been seen as an inevitable bone degeneration that comes with age.

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

This research was published in BMJ.

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