Progeria

Fair warning: this week’s post will be more technical than my usual posts. This is because the condition I will be discussing has a known cause that I find extremely interesting and potentially applicable to the process of human aging.

Progeria is a word that stems from the Greek roots pro (before/premature) and geras (old age). Hence Progeria can be translated to literally mean “before old age” or “premature old age”. Progeria is an interesting condition to look at, and a humbling one to understand.

Progeria is a rare genetic disorder that affects about 1 in every 8 million births. Also known as Hutchinson-Gilford progeria syndrome or HGPS, patients with Progeria show many aspects of aging at a young age. People with Progeria usually die around the age of 13, but some may make it to their early twenties. The cause of their deaths? Usually heart attack or stroke; imagine having one of those before your 15th birthday. Patients with Progeria quickly develop into the aging process. After just around a year and a half they suffer from full body hair loss and develop distinctive facial features such as a small face with a pinched nose and recessed jawline. Soon after in their short lives they will suffer from the seemingly normal aging process by developing wrinkled skin, loss of eyesight, cardiovascular problems, skin conditions, and even kidney failure. Patients usually have small, fragile bodies that resemble most elderly figures. They may suffer from hip dislocations, stiff joints, and loss of skeletal muscle. Around 140 cases have been documented so far. The reason Progeria is so rare is because patients almost never live long enough to pass it on through progeny so genetic mutation is really the only realistic way people get it.

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I’ve already mentioned the cause of Progeria is a genetic mutation; let’s take a closer look into what happens. I will briefly compare the differences between normal cells and Progerian cells. In both cells the gene LMNA codes for a protein called prelamin A. Prelamin A has something attached to it called a farnesyl group (for those interested look up protein prenylation). In normal cells the farnesyl group is removed from the prelamin A. In Progerian cells the mutated LMNA gene results in the farnesyl group remaining attached to prelamin A. In the normal cell we call the resulting protein lamin A; in Progerian cells we call it progerin. Lamin A is not attached to the nuclear rim in cells, whereas progerin is. In normal cells this results in a normally shaped nucleus in contrast to an abnormally shaped nucleus in Progerian cells.

On the left is a normal cell nucleus. On the right is a Progerian cell's nucleus.

On the left is a normal cell nucleus. On the right is a Progerian cell’s nucleus.

What I find extremely interesting, is that when our bodies get older something actually tells our body to start producing progerin. It may be metabolically intentional or incidental but in either case it’s thought-provoking. To date there is no treatment for Progeria. However, I cannot help but think that if we can discover a way to manually “fix” cells to continually remove the farnesyl groups in cell development than we may stumble on a way to decrease the effects of aging and maybe even live longer.
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Keep it cool,
K

10 thoughts on “Progeria

  1. I have heard about progeria before and I have seen pictures of children with it. It is sad to see someone so young appear so old. In the future gene therapy could be beneficial at preventing progeria or at least slowing the process.

  2. This disease reminds me a little bit of “the Curious Case of Benjamin Button” (in which the protagonist ages backwards). In high school biology I was taught that aging is a result of the degrading of telomeres. Out of all the diseases you’ve covered, this one is particularly upsetting because it affects little children.

  3. I didn’t realize that the effects of aging were caused by something in our genes as if it were a self destruct button. I always thought that the effects of aging originated from our bodies wearing out just like parts of a machine do. That would be really scary to have progeria. I wonder if a kid with progeria would have to go to school since they would die before graduation anyways.
    I find it very interesting that the effects of aging could theoretically be countered. If doing so only keeps a person in their prime, then I’m all for further research. This would cause old people to continue to be productive and help society rather than be a burden to it. However, if it extends life expectancy then I may not support research. If everyone lives longer, then the world’s resources will be stretched thin.

  4. This was a really interesting post. It is definitely very interesting to think about the impacts that a cure for this disease could have, not only for people suffering from this condition, but for all people. It would be interesting to discover exactly what it is in our bodies that tells it to start producing progerin, especially since the effects of aging are seen in different people at different ages. A lot of knowledge could definitely come out of the study of this protein, and I am excited to see what else we will learn.

  5. Wow, this sounds like a pretty awful disease. I have never heard of it before, but now I’m interested in researching more. I immediately thought of if we could reduce the progerin what would happen and if we could actually live longer. Thanks for sharing!

  6. Its quite unfortunate that I previously had not hear about this mutation before this blog post although, I believe that I have seen a numerous amount of people that look as you described in this post. This just shows how unaware I am. Reading this broadened my knowledge about this mutation and now I feel the urge to learn more about Progeria. Thank you for sharing this informatiom!

  7. I once watched a Bollywood movie call “Paa” which was on Progeria. Although it full of typical movie drama, it was still very interesting to learn more about this condition. Reading your post helped to enlighten me more on the genetic disorder. It would be very interesting to find ways to slow down the effects of aging while finding a treatment for Progeria. Great post, Karam!

  8. K, I remember watching documentaries about Progeria when I was younger and thinking to myself that it was insane that a disease could physically age you beyond your years. Of course, now that I know more about genetics and mutations and heredity, I understand that there really is no limit to what can go wrong in the human body. I know this may seem optimistic, but perhaps gene therapy could one day minimize the effects of this aging and even halt its process.

  9. I’ve watched lots of documentaries of people with progeria and it absolutely fascinates me. My favorite is “Life According to Sam” about Sam Burns. Unfortunately, he passed away in January 2014, but his mother is one of the scientists who conducted a study on a specific medication that can slow or decrease the effects of progeria, especially cholesterol and bone mass which was successful. Loved reading about progeria and being refreshed on how serious of a disease it is. Great read!

  10. The process of aging really isn’t understood very well. Theoretically our cells should keep regenerating over and over again continuously, but there is a glitch in the system which causes the release of growth factors which build up and inhibit the process. I honestly believe that with more research, humans will be able to “duck decay,” so to speak, but the consequences of that would be that the human race would extinguish natural resources faster if everyone lived longer.

    Anyway, well written blog post (as usual) on the condition of Progeria. Keep keeping it cool.

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