Promising Research Results

A recent article that I read described DNA as “the master text of life.” It is a useful analogy that depicts DNA as a book of messages that must be read and transcribed into instructions or products. RNA, or ribonucleic acid, is the transcriber of the DNA message and proteins are the products of that message.

Many diseases are the result of errors or mutations in the DNA message. These errors may alter the normal amino acid sequence of a protein to yield a novel protein, a reduced amount of the functioning protein, or a complete absence of the normal protein product.

In cystic fibrosis there are literally hundreds of these errors or mutations in a gene identified as CFTR and specific mutations are seen in specific populations. The incidence of cystic fibrosis in the Caucasian population is 1 in 2500. In other populations the frequency is lower but the disease manifestations are the same. Cystic fibrosis involves several organs including the pancreas, lungs, sweat glands and the intestinal tract. The mutation results in the abnormal transport of chloride ions across cell membranes in these organs. This transport error causes the development of thick mucus that damages the respiratory tract and provides an ideal environment for bacterial growth and infection.

Current treatment for this disease includes aggressive chest physiotherapy, pancreatic protein supplements, a special high-calorie diet, and extensive use of antibiotics. Discussions on future treatment methods revolve around gene therapy but currently there are many difficulties with this technology.

An Israeli research team recently published their findings in the New England Journal of Medicine. Their findings may one day develop into a new way of treating this disease. In a particular CFTR mutation affecting the Israeli population, researchers were able to re-establish the normal ion transport mechanism using nasal drops containing the antibiotic gentamycin. It is important to note that this early research involved nasal membranes only and that future research will be needed to test gentamycin’s effectiveness in pulmonary cells.

According to Dr. Peter Durie, director of the Cystic Fibrosis Center at the Hospital for Sick Children in Toronto, the “discovery opens a window on research, demonstrating that a well-known drug may have the power to influence genes.” This is a significant and hopeful first step, but the first step in a very long research process.