What is Gene Mutation?

Making a permanent change in the DNA sequence is known as "gene mutation." The mutation changes the allele that is established in the population to a rare and abnormal variant. Gene mutation can occur in two ways, either by being inherited from a parent or they can be acquired during a person's lifetime. If gene mutations are inherited from a parent then it is called hereditary mutations, meaning that the gene mutations are also present in egg and sperm cells. In virtually every cell in the body this type of mutation is present. Ultraviolet radiations from the sun or a mistake made during cell division are examples of factors that can cause acquired mutation to occur in the DNA of individual cells. This type of mutation cannot be passed on the next generation.

What is Cystic Fibrosis? A human disease or a health problem?





[Figure 1 – United States National Library of Medicine]


Affecting mainly the lungs and digestive system, cystic fibrosis is a hereditary disease meaning that it is an inherited disease. Cystic fibrosis is also known as mucoviscidosis. Frequent lung infections occur because the immune system is less competent and thick mucus is produced. This mucus is produced because the layer of the cells that line the passages in the body's organs, also known as the epithelium, is affected by cystic fibrosis. The thick mucus does not move easily and therefore clogs the passages and the infection sets in [Figure 1]. The lungs and the pancreas are the two most affected organs because the thick mucus causes breathing and digestive problems [Figure 2]. Cystic fibrosis is a human disease because a disease is a pathological condition of a body part and characterized by an identifiable group of signs or symptoms.




















[Figure 2 – Wesley J Smith]



Infections are caused because the bacteria remain due to the fact that the thicker mucus has trouble moving out of the lungs [Figure 1]. The pancreas is an organ that produces proteins called enzymes that support the body's digestion process. These enzymes break down the fat. If you have cystic fibrosis, the pancreas does not produce enzymes. Without these enzymes, the fat in food is not properly digested and it is difficult to gain weight. Mucus is also found in the pancreas because the mucus is able to block the path between the pancreas and the intestines.

Conditions associated with Cystic Fibrosis:

- Polyps in the nose (small growths).
- Infertility in men (tube that carries sperm may become blocked).
- Fertility problems in women (irregular menstrual cycles).
- Diabetes (cystic fibrosis can damage the pancreas).

What causes Cystic Fibrosis?

Cystic fibrosis is caused by gene mutations in a gene on chromosome 7 which is one of the 23 pairs of chromosomes that children inherit from their parents. A protein called Cystic Fibrosis Transmembrane Regulator (CFTR) is produced because of mutations in the gene. This gene is necessary to produce sweat, digestive juices and mucus and its gene product functions as a chloride channel. In almost all people born with cystic fibrosis, one gene is received from each parent. If both parents have cystic fibrosis then the child has a 1 in 4 chance of having the disease. It is possible for doctors to perform tests during pregnancy so that parents can find out more about the chances that their child will have cystic fibrosis.

What are the symptoms of Cystic Fibrosis?

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By the time a child is three years old they have usually been diagnosed by their doctor but if it is a milder form of cystic fibrosis then it is possible for it not to be diagnosed until the person reaches the teen years.
















[Figure 3 – Human Diseases and Conditions]


Symptoms of Cystic Fibrosis:

- Frequent lung infections [Figure 3]                              
- Persistent cough                                             ...

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