This essay has a total of 1232 words and 9 pages.



According to old northern European folklore, a child that tasted salty when kissed upon
the forehead was bewitched and would soon die. Today we know the reason -the genetic
disease, cystic fibrosis or CF. It is a chronic, progressive disease and the most
common, fatal inherited disorder in the United States.

About 30,000 Americans suffer from cystic fibrosis, and 2500 babies are born in the U.S.
with the disease each year. While all races and ethnic groups may suffer from the
disease, it occurs most often in whites whose ancestors came from northern Europe. About
1 in every 20 Americans is an unaffected carrier of the disease because they have one
abnormal “CF gene”.

Patients with CF produce a thick, sticky mucus; much thicker than a healthy person. The
buildup of this mucus clogs ducts and body tubes, leading to chronic tissue inflammation
and the replacement of injured cells with scar tissue which blocks the airways of the
lungs and ducts in the pancreas and liver. In the lungs, this mucus impairs breathing and
causes chronic bacterial infections. Lung disease is the main cause of death from cystic
fibrosis. Occlusion of ducts in the pancreas prevents digestive enzymes produced by the
pancreas from reaching the intestines where they are required for proper digestion.
Cirrhosis of the liver and male infertility are also associated with the disease.

Until recently, most of the information known about cystic fibrosis was gained from
observation. In 1938, Dorothy H. Anderson of Columbia University, provided the first
descriptions of body changes produced by CF. From autopsies performed on infants and
children, she described destruction of the lungs and pancreas. A decade later, physicians
had connected the clogged ducts and passageways to the body’s inability to digest
nutrients and respiratory failure.

By 1946, studies about family patterns of disease inheritance led researchers to realize
that cystic fibrosis was probably caused by a single gene mutation. It is called an
autosomal recessive condition. The function of most genes is to instruct the cells to
make particular proteins, most of which are needed to keep us alive. If the basic
building blocks of a gene (called base pairs) are altered or mutated, the protein that the
gene codes for will be defective or not produced at all. Researchers concluded that if a
child inherited an altered copy of the gene from both parents (making no normal molecules
of the protein coded for by that gene), the child became sick; however, a good gene from
one parent and an altered gene from the other parent did not produce the disease. This
means that each time two carriers produce a child, there is a 25 percent chance the child
will have CF; a 50 percent chance the child will be a carrier; and a 25 percent chance the
child will be a non-carrier (completely free of the altered gene).

About seven years after the inheritance pattern was discovered, a New York City heat wave
caused doctors to see a large number of children with cystic fibrosis who were dehydrated.
At Columbia University, researchers concluded that children with CF lose an excessive
amount of salt in their sweat. While the reason for the salty skin was still a mystery,
the information became the basis for the test used to tell if a child has cystic fibrosis:
measurement of the salt content in sweat. In 1985, Paul Quinton answered the salty skin
question. Sweat, which is normally produced at the base of the sweat gland, has high
concentrations of sodium and chloride ions (the ingredients in salt). As sweat flows to
the skin surface the ions escape, through channels, to the epithelial tissue surrounding
the glands. The sweat that emerges to cool the skin is then only slightly salty. In
patients with cystic fibrosis, the epithelial tissue was impermeable to chloride. The
chloride-transporting channel in the epithelial tissue did not function causing the sweat
to remain very salty. In addition, the salt build-up caused water to be drawn into these
cells by osmosis, making the mucus very thick.

In 1989, a team of scientists isolated the gene (located on chromosome 7) that produces
the protein responsible for the movement of chloride ions through the cell membrane. They
named the protein “cystic fibrosis transmembrane conductance regulator” or CFTR. This
protein forms a channel in the cell membrane to transport chloride. The team also found
that the gene mutation involved in 70-80 percent of cystic fibrosis cases was due to the
deletion of three base pairs from the gene. Because of this base pairs deletion, the CFTR
protein produced by the defective gene, lacks a single amino acid: phenylalanine at
position 508. The mutated protein is called deltaF508

CFTR. Various other mutations on this gene- over 400 at last count- seem to be
responsible for the remaining cystic fibrosis cases.

Since these latest discoveries, CF research has greatly increased. Cystic fibrosis was
once considered a fatal childhood disease. Thirty years ago the median life expectancy
was 8 years. Today better treatment and drugs have increased the life span of CF patients
to 29 years. Antibiotics, enzyme supplements, vitamins, special enriched diets,
bronchodialators, mucolytics, and decongestants have all proven helpful in treating the
disease. Physical therapy, consisting of bronchial, or postural drainage procedures, and
exercise are also helpful. INS365, a new drug, is being studied for its ability to
stimulate cells to secrete chloride. This in turn would lead to mucus that is thinner and
less sticky. One treatment strategy, now in clinical trials, is to correct the protein
product of the gene. The CF sufferer would actually be given the active form of the
protein. While the length and quality of a CF victims life has been improved, there is
still no cure. Those who suffer from cystic fibrosis face a new set of problems- going to
college, getting a job, finding health insurance, and building permanent
relationships-while still maintaining medications and treatments.
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