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Cystic Fibrosis Essay

3700 words - 15 pages

F. Alvarez, L. Bauer, S. Getahun, L. Hernandez, and E. Simpson
BSCI 440 Discussion Tu 2pm
CF Group Research Paper
Cystic Fibrosis is an inherited chronic disease that affects the lungs and digestive system of
approximately 30,000 children and adults in the United States and approximately 70,000 people
worldwide. A defective gene and its protein product cause the body to produce unusually thick,
sticky mucus that causes two main issues: 1) it clogs the lungs, leading to life-threatening lung
infections and 2) it obstructs the pancreas and stops natural enzymes from helping the body break
down and absorb food.1 Approximately 1,000 new cases of cystic fibrosis diagnosed each year.
Over ...view middle of the document...

At the turn of the 20th
century it was first observed that lung disease, diarrhea, steatorrhea, and abnormal pancreatic
function were correlated. The current terminology for CF began to evolve during the 1930s and CF
was officially recognized as a disease around 1936. Finally in 1946, the first persuasive evidence
that CF was the result of an autosomal recessive genetic mutation was presented. In 1948, a
notable heat wave hit New York and resulted in a high incidence of heat exhaustion in many
patients with CF. This event lead investigators to the empirical understanding of the medieval
folklore’s description of salty tasting skin. Within 5 years, it was established that the uniqueness of
this salty skin provided an accessible and accurate method of diagnosis. The sweat test quickly
became and remains to this day one of the most common and reliable single parameter for
diagnosing CF.2 CF is an autosomal recessive condition caused by CFTR gene mutation on the
q31.2 region of chromosome seven.4 Thousands of possible CF causing mutations are divided into
six classes based on the specific type of mutation; most common is a deletion of Phe508.5 The
sweat test has remained the gold standard for diagnosis but genetic testing has proved a powerful
technique in identifying mutation class.6 Mutation classes are not associated with specific
phenotype or prognosis, so genetic tests are not predictive.7
The cystic fibrosis transmembrane conductance regulator protein (CFTR) is a monomeric
ATPase family transmembrane protein with an anion selective pore that allows Cl- to move down
an electrochemical gradient. CFTR functions normally through a cyclic adenosine monophosphate
(cAMP) mediated secondary pathway. Although CFTR is principally expressed in epithelial
tissues, it is also expressed in cardiac myocytes, smooth muscle, endothelium, and erythrocytes.8 It
has been identified as having regulatory effects on Ca2+ and bicarbonate concentrations in the
cytoplasm.9 CFTR is gated by ATP binding and hydrolysis to enable specific regulation. Five Clbinding sites have been identified but it is not clear how many NaCl molecules flow through in one
cycle.10,11,12 A defective CFTR protein has widespread physiological impact, particularly on the
digestive and respiratory systems. Mutant CFTR can result in dysfunctional protein synthesis or
functionality, although 50% loss of functional CFTR is clinically insignificant.13 CFTR mutations

F. Alvarez, L. Bauer, S. Getahun, L. Hernandez, and E. Simpson
BSCI 440 Discussion Tu 2pm
CF Group Research Paper
that result in limited protein function induce a mild form of CF. With only four percent of
functional CFTR, a severe form of CF is experienced.14 Phenotypes observed in classic CF include
premature mortality, pancreatic insufficiency, higher frequency meconium ileus, earlier/more
severe deterioration of lung function, higher incidence of malnutrition and severe liver disease.

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