Where am I?
There are 46 chromosomes in your body, carrying 20-25 thousand genes. Chromosomes and the genes they contain shape the genetic memory of a human being. Genes can contain hundreds of features, and these are revealed over time. For instance, you do not have any teeth when you are a newborn, but the time when you will get your teeth is encoded into your genetic memory. Once genes receive the action command, teeth start to emerge.
There are hundreds of genes located on chromosomes, all the way from the chromosome number 1 and 2, to chromosome number 46. For example, there are around three thousand genes found on chromosome number 1. The Y chromosome, in charge of male development, only contains 125 genes. A distinct address (locus) for each gene on the chromosomes is recorded. If you ask about the address of the fibrillin gene that synthesizes me, it is 15q 21.1, i.e., 15th Avenue, Long arm street, 21st pl, Number 1.
In other words my residing address is the 1st subband of the 1st band of the 2nd region located at the long arm of chromosome number 15. We are three siblings, known as fibrillin1, fibrillin2 and fibrillin3.
We stretch and relax like an arch. We can expand and tighten like an inflated balloon and then return to our previous state. If by an error, we happen to fail to restore ourselves after inflation, the tissue's architecture gets deformed and expanded fibers cannot regain their original shape anymore. When observed in veins, this situation is called an aneurysm. The frequency of this disease is approximately one in ten thousand, which is also called ballooning. That said, my flexing is necessary. Veins flex so that the blood pumping through them doesn't cause any turbulence, as it would otherwise be during a vacuum occurring inside metal water pipes. Flexible sportsmen who do acrobatic moves do not compare with me. I can bend, curve, flex, relax and constrict, inflate, deflate and transform like elastic, from one shape to another, for your health and overall convenience - all because of the wondrous features granted to my nature.
What kind of a fiber am I?
I provide structural support for the fabrication of elastic fibers in the connective tissue as a protein synthesized according to the code of the fibrillin gene. In case of my failure or absence, weaknesses occur, especially in the connective tissues of organs that are rich in elastic fibers, such as the aorta, lungs, and eye balls. The iris (the colored part of the eye), pupil, and eye lens display changes in accordance with levels of light or distance of objects observed. These changes are controlled perfectly according to my work, and humans often don't even notice this. We also help the eye lens constrict and relax. It can be understood that we are such a great blessing granted for your service. Of course, if we tried to count all the blessings we've been given, and never even consider, it would be impossible!
My weight is 350 kilo daltons. A Dalton is an atomic mass unit approximately equal to one hydrogen atoms' mass, which is 1.66x10-24. I consist of 2.871 amino acids. I am formed by the sequential arrangement of 20 amino acids that exist in your body as the smallest unit of proteins. We bind each other to become 10-12 nanometers wide microfibers as the result of a process called polymerization that brings loops of a protein chain together. These microfibers are brought together with the elastin protein that provides elasticity in our body. The system that we form with elastic fibrils constantly serves the body's blood vessels, primarily the vessels located in your eyes, heart, and many of your tissues, such as your skin and nerves.
What do I do? We fulfill commands that are requested from us in many tissues and organs, without any flaws. Scientists call us the wonderful building blocks of the body's architecture. We can extend twice as much of our length. We are always on task: while you are breathing, when your heart is pumping blood and your stomach is digesting food, or the moment you are gazing at nature with your eyes. We are given the duty to prevent many organs from tearing, including the heart, lungs, stomach, and blood vessels. One of the places I work most frequently is the aorta, the body's major artery. Your heart beats approximately a hundred thousand times a day. A high level of pressure develops in the arteries during the pumping process. You would suffer greatly without the help of our elastic fibers. Blood vessels would rupture, ending your life. This high pressure is tolerated only through the expansion of the vessel's diameter without any decrease in length of the artery. This diameter regulation is designed so wondrously that blood flow remains the same; no shaking or waves are observed. This diameter control happens via the fibrillin protein located inside the vessel.
I also play a role in the vitality and tension of your skin. Skin is essentially a dense fibrous connective tissue composed of a protein called collagen. I am also one of the main elements of this connective tissue. As you age, this layer starts to dry and has lesser fibrous proteins; therefore, as fibers decrease, so does my tension, and I start to wrinkle. Elderly people do not like getting wrinkly, but this is your fate. Whatever you do, I will also age and die.
I cannot go without pressing this important issue: Staying under the sun for a long time degrades me. If done properly, sun light is useful for skin. But solar radiation damages the live tissues and organs. This radiation is an effective factor both in degradation of protein structures, and the formation of varicose veins and skin damage. It is reported in various sources that exposure to sun rays leads to alterations in the genetic material of skin. Ultraviolet rays speed up the degradation of skin. In medical language, this is called oxidation via free radicals. Please do not burn us and yourself while sunbathing. Even if you do not care for yourselves, you should still be considerate of us. If you say that sunbathing both helps, with vitamin D synthesis and reducing the risk of osteoporosis, I would like to remind you that for the vitamin D synthesis of skin, it is sufficient to expose your hands, feet and face to the sun.
How is life without me?
Though we were wisely designed, sometimes, you are tested by certain diseases in which we are not present. Absence, as they say, makes the heart grow fonder!
Life without me is unbearable. I could give a couple of examples, should you like. If I was not created, your skin would not be flexible. You wouldn't be able to control your eye lenses. Your aorta would not be flexible and your heart, which beats thousands of times a day, would be torn under the high pressure in a short amount of time. Major problems would occur with the development of your stomach, lungs, and other organs.
I also have a significant job keeping TGF-Beta (which helps cells grow) function under control. To give you an idea of how important this is, imagine your communication system turned upside down. Now imagine how complicated are the communication systems connecting billions of people around the world, how a mess it would be when they are out of service. These are nothing when compared to the human body. There are 100 trillion cells in the human body, communicating with each other instantaneously. A cellular community that is fifteen thousand times more crowded than the earth's population communicates via small molecules, like us. Cellular proliferation and tissue differentiation would fail if cells failed to communicate. The full spoon of food in your hand would not end in your mouth but maybe in your ear or your eyes.
If a mutation happens with the Fibrillin-1 gene, Marfan syndrome can occur. This disease, which was defined in the 1800s, is named after its discoverer. The frequency of this disease is one in five thousand. One of the major lethal consequences of Marfan syndrome is an aorta tear. This is in addition to many problems with the eyes, skeleton, and cardio-vascular systems. Many of the patients die in their 30s or 40s because of the flaws in the cardio-vascular system. Of course, death may occur at any age because of an aorta rupture. 14% of the patients with Marfan syndrome display chronic obstructive pulmonary disease (COPD), which is associated with breathing problems, because the integrity of lung tissue is compromised. Another disease I help prevent is called Ektopia lentis, in which the eye lens is displaced from its original position. Normally, I help eye functioning. When my fibers relax or constrict, depending on light, I help the eye to relax, enabling both near and far sightedness. With Ektopia lentis, anomalies on the front vestibule of the eye, a high degree of myopia, and retina damage occur.
If overproduced, I can cause another problem with the eye, called exfoliation syndrome. This is when fibrous connective tissue, like me, accumulates in the eye - it's commonly called glaucoma, or ocular hypertension. In some people, as they age, a fibrous material like hair dandruff collects on the eye lens. This material, dislocated by movements of the iris, blocks the drainage channels that discharge the intraocular fluid. Eye pressure increases as the result of failed drainage. As you see, I am not a problem when I am synthesized normally, but can be trouble if over produced! My final request from you!
You have seen our amazing works and complicated functions. Therefore, please remember me and my friends. Please do not ignore our efforts and activities. Be grateful for the blessings provided through us, even if you can't see them. And take care of us, please - don't get carried away with too much tanning!