Cystic fibrosis is an inherited disease caused by a defect in the CFTR gene. This gene mutation impairs the function of the protein that regulates the movement of salt in and out of cells. The result is thick, sticky mucus in the respiratory, digestive, and reproductive systems, as well as increased salt in sweat. Instead of acting as a lubricant, the secretions plug up tubes, ducts, and passageways, especially in the lungs and pancreas.
Cystic fibrosis causes severe damage to the lungs, digestive system, and other organs in the body. People with cystic fibrosis live on average into their 30s, but in less severe cases may live until their mid-50s.
Children need to inherit one copy of the gene from each parent in order to have the disease. If children inherit only one copy, they won’t develop cystic fibrosis. However, they will be carriers and possibly pass the gene on to their own children.
Cystic Fibrosis Symptoms
Cystic fibrosis causes a variety of symptoms related to impaired lung and digestive system function. It can also lead to the development of liver disease and diabetes and associated symptoms.
The thick mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients, particularly dietary protein, fats, and fat-soluble vitamins. As a result, cystic fibrosis patients may suffer from malnutrition.
The age of onset and severity of symptoms may vary.
Cystic Fibrosis and Amino Acids
Muscle loss is a common symptom of cystic fibrosis. Although it seems logical to increase the number of calories and amount of protein you eat in order to stimulate muscle gain, this method has proven only partially successful.
What has proven successful for individuals with cystic fibrosis is the use of essential amino acids to help build muscle. Essential amino acids are the “active” components of dietary protein that stimulate muscle protein synthesis. In essence, essential amino acids are the metabolic basis for the growth of lean body mass, including muscle. Essential amino acids can overcome the resistance to the muscle-building effect of dietary protein in many pathological states, including cystic fibrosis.
Essential amino acids are particularly suited to people with cystic fibrosis because they do not require the secretion of digestive enzymes for digestion. In a recent study published in the Journal of Cystic Fibrosis, children with cystic fibrosis who took a 6.7-gram essential amino acid supplement had greater gains in muscle protein synthesis than those who supplemented with the same dose of essential amino acids plus nonessential amino acids in the profile of whey protein, regardless of their nutritional status.
This finding is especially important because it showed that a mixture of essential amino acids did not need the secretion of digestive enzymes for absorption. It can reasonably be assumed that the gain in protein synthesis produced by the essential amino acid supplement would have been even greater if it were compared to the response produced by an intact dietary protein that required the secretion of digestive enzymes.
Since essential amino acids are natural (and required) nutrients, taking 6.7 grams on a daily basis should improve lean body mass without adverse side effects in those with cystic fibrosis.