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CYSTIC FIBROSIS AND CELL

COMMUNICATION

CFTR

Cystic Fibrosis Transmembrane Conductance Regulator ( Or

CFTR)

Is a transport protein for Chloride across cell

membranes.

Helps in the production of mucus, urine, and other waste

products

Allows free flow of water and Cl- ions throughout the cell.

CYSTIC FIBROSIS AND DISRUPTION OF CFTR

Cause:

Cystic Fibrosis is caused by a mutation of CTFR, most commonly a deletion of three nucleotides.

CF is an autosomal recessive disease

Salt and water are no longer able to move in and out of the cell freely, as they were prior to this mutation.

SYMPTOMS

Symptoms of CF include:Sinus Problems/Frequent Infections

Frequent Lung InfectionsAbnormal Pancreas Function

Can Lead To DiabetesDifficulty Digesting FoodPoor Growth and NutritionCauses Infertility

TREATMENTS

Pulmonary Rehab Usually Steroids are administered to

stimulate cell activity Synthetic Protein Channels

Complete Lung Replacement As cells continue to deteriorate, a

total lung transplant becomes required

Insulin injections and pumps are frequently used to treat the symptom of diabetes.

SYMPTOMS CONT.

Deterioration of cells usually lead to shorter lifespan in people with CF

People with CF, on average, develop diabetes at a much earlier age than people without.

GENETICS

CF is a recessive gene disorder

Most commonly caused by a loss of the amino acid phenylalanine

Most people have to copies of the CFTR protein, two mutated copies are needed to cause Cystic Fibrosis.

CONCLUSION

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QUESTIONS & DISCUSSION