Cystic known as cystic fibrosis, a genetic disease

Cystic fibrosis, Huntington’s disease, Tay-Sachs disease, sickle cell disease, Down syndrome, and cancer all have something in common.

They are all genetic disorders, and we will discuss why they may occur and what problems they might cause.

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Genetic Disorders ; Errors

Genetic disorders are types of diseases that occur as a result of an abnormality in our genetic code – the code that makes us who we are. If it is a bit off or massively messed up, then run-time errors result, causing a person with the genetic disorders a whole slew of problems.This lesson will point out for you some very well-known genetic disorders, why they occur, and what that results in, in terms of errors in function of our body.

Cystic Fibrosis and Sickle-Cell Disease

One very well-known and talked about genetic disorder is known as cystic fibrosis, a genetic disease that occurs as a result of a mutation in the CFTR gene. A mutation in this gene causes normally thin and watery secretions in your lungs and pancreas to become very thick and sticky, like molasses.This causes the airways of the lungs to become clogged with abnormal mucus. The thick mucus results in difficulty breathing and predisposes a person to bacterial infections in the lungs.

Because the ducts of the pancreas, an organ that makes digestive juices, are also clogged up, people suffer from malnutrition, because they cannot properly digest and absorb their food.Cystic fibrosis is like having the city streets, like airways and ducts in your body, chock full of molasses. It will be very difficult to move through them, like it is difficult for air and digestive juices to move through the clogged passageways as well.Another very famous genetic disorder is called sickle cell disease, and it is a blood disorder that results in abnormally shaped red blood cells. Normally, red blood cells, the guys that carry oxygen throughout your body, have a nice round shape. But in sickle cell disease, the red blood cells look like a sickle, as in a hammer and sickle. Or, you can think of them as having a crescent shape.

These abnormal red blood cells do not live for very long, about 10-20 days, as opposed to 120 days for a normal red blood cell. Because the number of dying red blood cells outpaces the amount that can be produced, a person becomes anemic, or deficient in red blood cells. This is why sickle cell anemia is just one problem associated with sickle cell disease, and it leads to a feeling of fatigue, since your body’s tissues don’t get enough energy-giving oxygen delivered to them.Just think of a sickle cell as a truck transporting energy drinks and food throughout a country.

If the trucks break down days after leaving an assembly plant, there won’t be a big enough supply of working trucks, and this causes fewer trucks to be on the road, which means there’s less food being delivered to stores. With sickle cell disease, your body isn’t getting nutrition very efficiently, and that means you are hungry more often and as a result feel kind of tired most of the time.

Down Syndrome, Tay Sachs, & Huntington’s Disease

While sickle cell anemia implies a lack of something, a lack of red blood cells, some genetic disorders have too much of something. Namely, in Down syndrome, people are born with one extra copy of chromosome 21 and therefore have three, as opposed to two, chromosomes.Down syndrome is a condition that results in mental disabilities, a small head, short neck, and flattened facial features.

Around half of all people born with Down syndrome also have a heart defect. Many others are predisposed to all sorts of other problems, like an underactive thyroid gland and gastrointestinal disease.Children born with Down syndrome typically live longer than those that are born with another terrible genetic disorder, known as Tay-Sachs disease. This is a disorder where a defective gene on chromosome 15 causes the destruction of neurons (or nerve cells) in the brain and spinal cord as a result of fatty substance accumulation.

Such a problem will lead to weak muscles, an inability to sit or crawl, seizures, vision and hearing loss, in addition to paralysis and death by age 4 or 5.The destruction of the nerve cells is akin to having the electrical circuitry in your phone, fridge, or car completely destroyed. None of these things can function without all that wiring, and that is similar to why a person’s body similarly shuts down under the influence of Tay-Sachs disease.Another genetic disorder that affects neurons is called Huntington’s disease, a disorder that causes the breakdown (or degeneration) of nerve cells in the brain due to a mutation in the HTT gene. Unlike Tay-Sachs disease, which causes problems early in life, Huntington’s disease usually causes symptoms around age 40. People who have this problem have trouble moving, due to involuntary jerking or muscle rigidity.

They also cognitive disorders, such as difficulty planning their tasks or learning new information. Psychiatric problems may also occur, such as depression or obsessive-compulsive disorder.

Cancer as a Genetic Disorder

While plenty of genetic disorders are inherited from a parent, not all have to be.Sometimes a person is born just fine, without any significant predisposition to any one disease. But over time, lifestyle factors may overpower even some of the strongest genes a person may have and lead to the development of cancer.Cancer refers to the abnormal growth, division, and even spread of cells throughout the body, due to alterations, or mutations, in DNA.

Yes, in some rare cases cancer can be inherited. In other cases, genetic predispositions to potentially developing cancer also exist.Overall, though, cancer can develop without the two latter factors. For instance, smoking, constant sun exposure, exposure to different drugs, toxins, and even viruses can lead to the formation of cancer even in people who do not have any overt predisposition to cancer development in general!The risk factors for cancer I just named are like evil computer programmers that hack into your computer code, your DNA, change the sequence of computer code, and watch with evil glee as pop-up windows multiply en masse on your computer screen.

Except in cancer, it is the body’s cells that multiply en masse.

Lesson Summary

This lesson explored some well-known and important genetic disorders. First, we took a look at cystic fibrosis, a genetic disease that occurs as a result of a mutation in the CFTR gene.

Cystic fibrosis causes thick and viscous mucus buildup in many places, including the lungs and pancreas.We then discussed sickle cell disease, and it is a blood disorder that results in abnormally shaped red blood cells. Sickle cell disease includes sickle cell anemia, a condition where there aren’t enough red blood cells. This occurs because the oddly shaped red blood cells die prematurely, far faster than they can be replaced.After discussing sickle cell disease, we went on to talk about Down syndrome, which is a condition that results in mental disabilities, a small head, short neck, and flattened facial features. Children suffering from Down syndrome have characteristically shaped faces and heads as well as intellectual disabilities.

Other children might be born with a very deadly genetic disorder known as Tay-Sachs disease. This is a disorder where a defective gene on chromosome 15 causes the destruction of neurons (nerve cells) in the brain and spinal cord as a result of fatty substance accumulation. Unfortunately, children born with this genetic disorder usually do not live past ages 4 or 5.While very young children are afflicted with Tay-Sachs disease, it is usually adults around the age of 40 or so that begin to have the symptoms associated with Huntington’s disease, a disorder that causes the breakdown (or degeneration) of nerve cells in the brain due to a mutation in the HTT gene.

This disease causes motor, cognitive, and psychiatric dysfunction in affected individuals.Finally, don’t forget that cancer is a genetic disease, even if it’s not an inherited form of cancer, because changes in cellular genetic structure, as a result of outside forces like sunlight and viruses, can cause the cells to multiply out of control.

Learning Outcomes

When this lesson is done, you should be able to:

  • Define what a genetic disorder is
  • Identify some of well-known genetic disorders
  • Recognize some inheirited cancers as a genetic disorder
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