Category Archives: Biological Sciences

The disease which turns you into a statue, FOP

We all know the story of Medusa, the serpent lady who can turn other life into stone statues of themselves, but what if I told you there is a disease that works similarly and results in the infected individual becoming absolutely immobile. Fibrodysplasia ossificans progressiva (FOP) is an extremely rare disease which affects only two individuals per one million people. FOP is caused by a mutation in the ACVR1 gene, which results in the wrong bonding shape of the protein responsible for rebuilding muscles so that bone and cartilage material are instead accumulates. When a FOP patient suffers damage to muscle tissue, bone matter builds on the injured area and hardens to form solid material. Signs of FOP can be seen at a early age, as patients develop distinct big toe joints that are aimed inwards.

 

The foot of a FOP patient; the toes are aimed inwards and have a distinct shape.http://fopaustralia.org/wp-content/uploads/2016/01/Child-toes.jpg

Jailed by Yourself

Imagine getting stuck within the confinements of your own body. Everyday, a part of your body would stop working. You will soon not be able to even lift your hands up to scratch your head. The only escape is death. This is exactly what a FOP patient is feeling throughout their life. Unfortunately, there are no cures for this type of disease. Bone removal is an option but it just delays the inevitable. Patients are advised to not move strenuously to minimize the muscle damage.

A video of a FOP patient is linked below:
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Victims of FOP 

The most famous of all FOP cases would be the case of Harry Eastlack. His condition came to light after he broke his leg which later hardened as the muscles in his legs became bones. Many more injuries later, Harry’s skeleton have morphed together, his vertebrae being one piece and most of his joints have fused. After he died from pneumonia, his body was donated to science and is now displayed at Mutter Museum.

The skeleton of Harry Eastlack; he froze in place, the same way he lived for the last few years of his life.https://www.raredr.com/news/physician-recommendations-fop

Hyperlink to sources: https://www.ifopa.org/what_is_fop, https://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressivahttps://www.webmd.com/children/what-is-fop

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Integrating Peptides into RNA-World

Integrating Peptides into RNA-World

The RNA-World

Over 4 billion years ago, the molecular precursors to life showed up in the inhospitable soup of chemicals that we can barely recognize as Earth. The identity of these first molecular precursors is a schismatic “the chicken or the egg” debate, splitting people between groups that support molecules that carry information and ones with enzymatic activity.

If only a family of molecules could both have enzymatic activity and contain genetic information. Thus we enter the “RNA-world”, RNAs are molecules with its unique properties of having enzymatic activities and contain genetic information, it is the perfect molecule to self-replicate and mutate to pave the way for peptide and DNA to take over each role more effectively. This was the widely accepted theory since the 1960’s and remain relatively unchallenged until recently.

File:Geological time spiral.png

The timeline of the biodiversity of Earth, it all started with a few molecules. Image Credit: United States Geological Survey

The Problems of RNA-World

An article in Biosystems and another in Molecular Biology and Evolution, showed why a peptide-RNA complex world view is better than RNA-world hypothesis at explaining what the primordial molecular precursors would look like.

The researchers, Charles Carter from the University of North Carolina and Peter Wills from University of Auckland, from the articles approached the subject from two angles. First, from the perspective of enzymatic activity, although RNA show enzymatic activity but RNA does not react well to change like proteins. As a result, in the environment 4 billion years ago when the sea was cooling rapidly, the only way enzymatic activity could have survived was through proteins.

The other problem was genetic information, because at the beginning there were no genes or genetic codes. The changes and mutations in RNA would only be reflected in its abilities as an enzyme. An RNA only world cannot explain how and why the changes in RNA would lead to the creation of a genetic code with the purpose to create proteins. Thus, leaving a gap between the RNA world to the protein and DNA world.

The Peptide-RNA World

They proposed that a peptide-RNA complex, with the peptides that contain enzyme activity and RNA for genetic information, would fill the gap that the RNA-world cannot explain. This relationship would directly explain how mutations in RNA would affect enzymatic activity in protein, and why it needs to create better proteins to protect itself from a wider variety of situations. Furthermore, the addition of proteins explain how the first molecular precursors could survive in the ever-changing climate of the relatively new Earth.

https://upload.wikimedia.org/wikipedia/commons/e/e2/Protein_mosaic.jpg

A protein mosaic, providing an insight on the complexity of proteins. Image Credit: Astrojan

When the proteins and RNA were joined together at the start of life, the mechanisms for construction through transcription, translation, and replication must have co-evolved. With this concept in mind, the researchers found commonalities between compounds similar to evolution from a common ancestor. Thus, with these concepts in mind, when looking at molecules we can find an evolutionary chain to see how molecules developed to be what it is today and also why they developed this way.

Finally, to answer the “chicken and the egg” debate, it is likely to be both like an Oyako-Don (mother-child bowl), a Japanese dish that harmonize chicken and eggs. Life as we know it was likely developed through a combined effort of RNA and proteins.