Tag: genes

Horrible Rare Genetic Disease Turns Humans to Statues

By Anupum Pant

Background

At an early age, the horrible, rare and poorly understood disease that we’ll discuss today – FOP – starts producing tumours in the body. Doctors usually assume it to be the fairly common cancerous tissue but when it turns out to be FOP, everybody panics. Yes, this one is more ruthless than cancer. How?

Well, FOP (Fibrodysplasia ossificans progressiva) turns humans into statues. It is also known as the stone man syndrome. It is an extremely rare genetic disorder in which the muscles and other connective tissues in the human body start turning into bone. Some times it happens automatically, other times it happens when the tissues are damaged. Gradually, the patients who are affected by FOP are imprisoned in their own skeletal prison.

FOP is one of the most bizarre diseases. And has no solid cure.

Why does it happen?

It happens because of a gene that fails to turn off. This gene is responsible to form bones in a baby’s body when it is still in the womb. Once the job is done, the job of the gene is to turn off itself. But when this deactivation of the gene doesn’t happen, the gene keeps making bones even after the child is born and ultimately turns a human into a statue made of bone.

Ashley Kurpiel: When Ashley was just 3 years old. Tumours started appearing in her arm. Doctors thought they were cancerous tissues and started taking steps to deal with it. Only when they removed her arm, the doctors realized it wasn’t cancer, it was a horror. They found, she had FOP. She was slowly turning into a statue made of bone.

Harry Eastlack: When he was 5, he broke a leg and then there were other complications while the fracture was being treated. The fracture didn’t set correctly. This made his hip and knee stiff and bone growths started on the muscles of his thigh. The transformation of muscle/tendons to bone started happening in other parts of the body too. By the time he turned 20, his backbone had turned into a single stiff piece of bone. When he was 39 years old and was almost turning 40, his body had turned completely into bone. His jaws were locked and the only part he could move in his body was his lips. Harry died from pneumonia before he could turn 40.

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Crocodiles Do Not Die

By Anupum Pant

Technically some animals like Alligators, Flounders and Crocodiles do not die. Instead of aging biologically, they just keep on growing physically. But why do Crocodiles all over the world keep on dying?

Senescence

In reality, we do see them dying. So, it would be right to say that they have the potential to live forever. To understand this we’ll have to first look at the term – Senescence.

Senescence is a term used to indicate gradual deterioration of the body with age. In simpler words, you could call it ‘aging’. Specifically, weakening of muscles, lowering mobility, poor sensory acuity and age-related diseases are signs of an animal showing senescence. Most animals exhibit Senescence. So, as we get older our deteriorated life parameters increase our risk of dying – Humans exhibit Senescence; Crocodiles do not.

Negligible Senescence

But, here on Earth, living with us, are a few species that exhibit Negligible Senescence. That means, they show almost no signs of aging, or they are ‘biologically immortal’.  Animals like these only die due to diseases, accidents or predators.

In animals, sea urchins, lobsters, clams and hydras are some examples. Vertebrates like a few Tortoises, Turtles, Crocodiles, Alligators, Rougheye rock fish and Flounders have been not observed to have aged biologically. That is the reason we had a 255 year old tortoise in the Kolkata zoo till the year 2006.

Among trees, probably the best example for an individual would be one Methuselah tree, which has been living for 4800 years. Its exact whereabouts are kept a secret to save it from us. On the other hand, a colony of a single tree has been estimated to be around 80,000 years old. It is also the heaviest known organism.

Side note: Tardigrades survive extreme conditions using a technique called cryptobiosis. They can die and literally come back to life.

Back to Crocs

Crocodiles have no such thing as old age. A 7-year-old crocodile is as good as a 70-year-old one in terms of agility and other life parameters. Aging has no effect on them. Although they can’t die of natural aging, they also can’t live forever. Nature has a way of killing them. The way they die is out of starvation or if they contract a disease.

They keep growing throughout their lifespan and they require more and more food. So, as they keep getting older they need a lot more food. When that amount of food is unavailable, they die from starvation. That is the reason we don’t see 1000 year old crocodiles that are 50 feet long. Still, see what this hunter shot in Australia in the year 1957 – It was an 8.1 m (28 feet) long crocodile!

huge crocodile in australia

Even if making human beings biologically immortal is an extremely controversial area, it doesn’t stop scientists. Scientists love to study organisms that exhibit negligible senescence because they’d love to find out a way to halt the aging process in humans by mimicking their gene structures. Probably, in the near future, we’ll find a way to demonstrate limitless Telomere regenerative capacity like Planarian Flatworms in humans.

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