The 60-Year-Old Children: Progeria and Human Longevity
Spot the Difference
In this world, there are many things that we see every day. Take bananas, as an example. There’s a man in the corner, munching on a yellow banana. Great. Nothing strange about that, right?
But then there are the anomalies of this life. Things we don’t see every day. Things that — when they appear — we stop and stare at for a few seconds because we can’t quite comprehend what’s going on.
Today, I have an anomaly to share with you. Take a look.
Photographed above is a little girl. Nothing abnormal here — just an adorable child gazing at the camera. This is what we see whenever we visit Walmart, a park, or any other public place. Your average five-year-old, happy and healthy.
Now, this is another little girl. She’s around the same age as the previous one, four or five. But wait, something’s different here. We don’t often see children like this at the store, if at all. What changed?
The answer is simple. This little girl suffers from Hutchinson-Gilford Progeria Syndrome, commonly known as Progeria.
What is Progeria?
Progeria is a genetic condition with which children undergo accelerated aging. By the time they’re three, those with this disease have already assumed the appearance of a 60-year-old. Their body, hair, and organs become akin to those of an elderly adult. They experience the loss of body fat and are at high risk for many diseases that most wouldn’t encounter until later in life.
1 in 4 million newborns suffer from this disease. Yeah, it’s rare.
The average child with Progeria dies at the young age of fourteen. For many, this death is caused by atherosclerosis — the clogging of arteries due to plaque buildup. But wait … atherosclerosis generally affects those in their 50’s or 60’s, right? Right. However, because these children are growing so quickly, they are more prone to this malady.
Those with Progeria develop similar facial characteristics. They have a small chin with prominent eyes and protruding ears. Their nose and lips are thin, skin aged and worn. They will develop alopecia, resulting in the loss of hair from all parts of the body. These features (and more) are demonstrated in the diagram below.
What Causes Progeria?
Progeria, in short terms, is caused by mutations in the LMNA gene. This gene is responsible for providing instructions to create lamin A, a protein that helps determine the shape of a cell’s nucleus. The mutation causes the protein to create an unstable nuclear envelope (the membrane around the nucleus), which damages the nucleus progressively and results in premature death of the cell.
Cells make up human tissue. Tissue makes up organs. Organs make up organ systems. Organ systems help your body function. In conclusion, if your cells die rapidly without being replaced then your body functions die and, ultimately, you die. See the issue here?
Progeria is an autosomal dominant disease, too. This means that if a newborn inherits just one copy of the mutated gene, they are likely to get the disorder. Those with a history of Progeria in their lineage are at high risk for the condition.
How Do We Fight Back?
Introducing: Human Longevity
Numerous children worldwide have died from Progeria. As of today, there is still no cure. How can we combat such a terrible disease that has taken the lives of so many?
I have an answer. Human longevity.
By definition, longevity means “long life.” Unfortunately, those with Progeria don’t get to have long lives. We can change that.
A normal human cell has a nucleus. Inside the nucleus are chromosomes, which are filled with the DNA that make us who we are. At the end of each chromosome is a telomere. I like to think of it as the hard part at the tip of a shoelace.
Every time a cell divides, it takes a toll on the chromosomes. Thankfully, the telomeres are there to protect them. However, after each cell division the telomeres shorten and wear down. Eventually, they don’t work anymore. This is when a cell “dies”.
Why is the word “dies” in quotations, you may be wondering? Truth is, the cell doesn’t technically die. It just becomes senescent.
A senescent cell is one that can no longer divide, but is still alive (just useless, basically). Most scientists refer to them as zombie cells. They can’t die — they’re just there.
Senescent cells can be harmful. They secrete proteins that may cause inflammation to surrounding tissue and cells. Research has shown that as they accumulate over time, they contribute to aging. That’s where Progeria comes in.
As I’ve mentioned before, people with Progeria don’t live for very long.
Progeria patients have naturally shorter telomeres than non-patients within the same age group. This means that the cell will die and become senescent faster, since it can’t undergo cell division that many times. The patient will have a buildup of senescent cells, which contributes to their body aging.
Sooo if these senescent cells are bad, why not completely remove them?
The problem is, they’re not entirely bad. An idea around senescent cells is that they aid in the prevention of tumors and wound healing. That’s why they can’t simply be extracted. So how do we work around this issue?
A New Approach
Dr. John Cooke, department chair of cardiovascular sciences at Houston Methodist Research Institute, explored a new approach to lengthen the telomeres of Progeria patients, rather than removing their senescent cells. Here’s how it works.
His team decided to utilize RNA therapeutics, which is a method that delivers encoded RNA to cells so they produce telomerase. Telomerase is an enzyme that aids in the lengthening of telomeres so they last for a longer period of time. By lengthening these telomeres, patients’ cells will be able to divide more times before dying, thus the process of aging will slow down.
Dr. Cooke and his team tested this approach and, much to their surprise, the results were outstanding. The patients’ cells were dividing and functioning normally after just one treatment. Although this method didn’t cure the disease altogether, it tackled a component so that these Progeria patients can live for a longer time.
So How Do We Find the Cure?
Truth is, it’ll take years for scientists to find a way to cure the entire disease. However, if we’re able to battle the aging aspect of Progeria, we can also battle the sprouting of diseases that root from aging. Patients won’t be at high-risk for strokes, heart attacks, etc. Children won’t be dying before they reach 15 and they’ll be enabled to live out their lives.
We have already made it this far in Progeria research and, before we know it, human longevity will find a cure for this and thousands of other conditions.
But for now, we wait. The future is near.
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About Progeria | The Progeria Research Foundation
Hutchinson-Gilford Progeria Syndrome ("Progeria", or "HGPS") is a rare, fatal genetic condition characterized by an…