Genetic Engineering 17

Medical Applications


The first and perhaps most obvious commercial application of genetic engineering was the introduction of genes that encode clinically important proteins into bacteria. Because bacterial cells can be grown cheaply in bulk (fermented in giant vats, like the yeasts that make beer), bacteria that incorporate recombinant genes can synthesize large amounts of the proteins those genes specify. This method has been used to produce several forms of human insulin and interferon, as well as other commercially valuable proteins such as growth hormone (figure 17) and erythropoietin, which stimulates red blood cell production.

Among the medically important proteins now manufactured by these approaches are atrial peptides, small proteins that may provide a new way to treat high blood pressure and kidney failure. Another is tissue plasminogen activator, a human protein synthesized in minute amounts that causes blood clots to dissolve and may be effective in preventing and treating heart attacks and strokes.

A problem with this general approach has been the difficulty of separating the desired protein from the others the bacteria make. The purification of proteins from such complex mixtures is both time-consuming and expensive, but it is still easier than isolating the proteins from the tissues of animals (for example, insulin from hog pancreases), which is how such proteins used to be obtained. Recently, however, researchers have succeeded in producing RNA transcripts of cloned genes; they can then use the transcripts to produce only these proteins in a test tube containing the transcribed RNA, ribosomes, cofactors, amino acids, tRNA, and ATP.

Gene Therapy

In 1990, researchers first attempted to combat genetic defects by the transfer of human genes. When a hereditary disorder is the result of a single defective gene, an obvious way to cure the disorder is to add a working copy of the gene. This approach is being use in an attempt to combat cystic fibrosis, and it offers potential for treating muscular dystrophy and a variety of other disorders (table 2). One of the first successful attempts was the transfer of a gene encoding the enzyme adenosine deaminase into the bone marrow of two girls suffering from a rare blood disorder caused by the lack of this enzyme. However, while many clinical trials are underway, no others have yet proven successful. This extremely promising approach will require a lot of additional effort. Figure 17

Genetically engineered human growth hormone. These two mice are genetically identical, but the large one has one extra gene: the gene encoding human growth hormone. The gene was added to the mouse’s genome by genetic engineers and is now a stable part of the mouse’s genetic endowment.

Table 2. Diseases Being Treated
in Clinical Trials of Gene Therapy

Disease (melanoma, renal cell, ovarian, neuroblastoma, brain, head and neck, lung, liver, breast, colon, prostate, mesothelioma, leukemia, lymphoma, multiple myeloma)

SCID (severe combined immunodeficiency)

Cystic fibrosis

Gaucher’s disease

Familial hypercholesterolemia


Purine nucleoside phosphorylase deficiency

Alpha-1 antitrypsin deficiency

Fanconi’s anemia

Hunter’s syndrome

Chronic granulomatous disease

Rheumatoid arthritis

Peripheral vascular disease


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