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Maggie’s Illness

Protein Structure and Function in Cystic Fibrosis

By Michaela Gazdik Stofer

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Maggie’s Illness

This directed case study examines the molecular basis of cystic fibrosis to emphasize the relationship between the genetic code stored in a DNA sequence and the encoded protein’s structure and function. Cystic fibrosis is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) protein that functions to help maintain salt and water balance along the surface of the lung and gastrointestinal tract. This case introduces students to “Maggie,” who has just been diagnosed with cystic fibrosis. The students must identify the mutation causing Maggie’s disease by transcribing and translating a portion of the wildtype and mutated CFTR gene. Students then compare the three-dimensional structures of the resulting proteins to better understand the effect a single amino acid mutation can have on the overall shape of a protein. Students also review the concepts of tonicity and osmosis to examine how the defective CFTR protein leads to an increase in the viscosity of mucus in cystic fibrosis patients. This case was developed for use in an introductory college-level biology course but could also be adapted for use in an upper-level cell or molecular biology course.

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  • Generate a protein sequence through transcription and translation of a given DNA gene sequence.
  • Explain the chemistry of amino acid side chains and their importance in protein folding.
  • Describe how a mutation in a protein sequence leads to changes in the overall tertiary structure of the protein.
  • Examine various levels of protein structure using Cn3D to view three-dimensional protein structures from NCBI’s Entrez Structure database.
  • Relate the loss of function of the CFTR protein to the physiological causes of cystic fibrosis.

Protein structure; transcription; translation; DNA mutation; cystic fibrosis; genetic disease; protein function; protein folding; protein; CFTR; Cn3D

  

Subject Headings

EDUCATIONAL LEVEL

Undergraduate lower division, Undergraduate upper division

TOPICAL AREAS

TYPE/METHODS

Teaching Notes & Answer Key

Teaching notes.

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Materials & Media

Supplemental materials.

The following two files should be viewed with the Cn3D software to view a single domain of the CFTR and ∆F508 CFTR proteins.

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Introduction.

  • Examination: Age 2 Months
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C ystic fibrosis (CF) is an autosomal recessive condition affecting approximately 30,000 Americans and 70,000 people worldwide. According to the Cystic Fibrosis Foundation ( Cystic Fibrosis Foundation, 2019a ), approximately 1,000 new cases are diagnosed yearly in the United States, with a known incidence of 1 per 3,900 live births. The disease prevalence varies greatly by ethnicity, with the highest prevalence occurring in Western European descendants and within the Ashkenazi Jewish population.

The CF gene, located on chromosome 7, was first identified in 1989. The disease process is caused by a mutation to the gene that encodes for the CF transmembrane conductance regulator (CFTR) protein. This mutation alters the production, structure, and function of cyclic adenosine monophosphate (cAMP), a dependent transmembrane chloride channel carrier protein found in the exocrine mucus glands throughout the body. The mutated carrier protein is unable to transport chloride across the cell membrane, resulting in an electrolyte and charge imbalance. Diffusion of water across the cell membrane is thus impaired, resulting in the development of a viscous layer of mucus. The thick mucus obstructs the cell membranes, traps nearby bacteria, and incites a local inflammatory response. Subsequent bacterial colonization occurs at an early age and ultimately this repetitive infectious process leads to progressive inflammatory damage to the organs involved in individuals with CF.

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IMAGES

  1. Case Study

    mi 2.2.1 cystic fibrosis case study

  2. case study about cystic fibrosis

    mi 2.2.1 cystic fibrosis case study

  3. Cystic Fibrosis

    mi 2.2.1 cystic fibrosis case study

  4. PPT

    mi 2.2.1 cystic fibrosis case study

  5. case study about cystic fibrosis

    mi 2.2.1 cystic fibrosis case study

  6. Cystic Fibrosis: Case Study

    mi 2.2.1 cystic fibrosis case study

VIDEO

  1. NACFC 2023

  2. CF Foundation

  3. NACFC 2023

  4. cystic fibrosis part 2

  5. L14: Cystic fibrosis , Chest, Med3/40

  6. Cystic Fibrosis Pathophysiology by Georgia Fyfe

COMMENTS

  1. Cystic Fibrosis Case Study Flashcards

    it is a simple, painless, reliable test that measures chloride in sweat. 1. which documentation further supports the diagnosis of CF. 2. how should the nurse educator respond about a vacation to the beach? 3. what information will the nurse include when teaching about the sweat test. 4. which rational best supports the referral to the cystic ...

  2. cystic fibrosis case study Flashcards

    This mucus clogs the airways and various ducts, causing the characteristic signs and symptoms of cystic fibrosis. what is the gold standard diagnosing CF? chloride sweat test. Study with Quizlet and memorize flashcards containing terms like what is CF?, where is CF usually?, what are the subjective findings that are consistent with the CF ...

  3. ATI PN Gas Exchange Oxygenation Cystic Fibrosis Part 2 Case Study

    ATI what available treatments for cystic fibrosis should you talk about with courtney and her family, and what recommendations should you make regarding how. Skip to document. University; High School. ... ATI PN Gas Exchange Oxygenation Cystic Fibrosis Part 2 Case Study. Course: Advanced Adult Medical‑Surgical Nursing (NURS 2455 ) 47 Documents.

  4. PDF Case 12. Cystic Fibrosis

    In addition, many states have introduced newborn screening for CF, resulting in the detection of asymptomatic infants with CF. Case 12. Failure to Thrive: Workup Results in Diagnosis of Cystic Fibrosis. Mr. and Mrs. M, a white couple, have two children, a four-year-old son and a three-month-old daughter. The three-month-old has had considerable ...

  5. Maggie's Illness

    This case introduces students to "Maggie," who has just been diagnosed with cystic fibrosis. The students must identify the mutation causing Maggie's disease by transcribing and translating a portion of the wildtype and mutated CFTR gene. Students then compare the three-dimensional structures of the resulting proteins to better understand ...

  6. Chapter 19: Case Study: Cystic Fibrosis

    Cystic fibrosis (CF) is an autosomal recessive condition affecting approximately 30,000 Americans and 70,000 people worldwide.According to the Cystic Fibrosis Foundation (Cystic Fibrosis Foundation, 2019a), approximately 1,000 new cases are diagnosed yearly in the United States, with a known incidence of 1 per 3,900 live births.The disease prevalence varies greatly by ethnicity, with the ...

  7. MI- 2.1 Flashcards

    Study with Quizlet and memorize flashcards containing terms like Why do we use genetic testing?, Explain how a genetic counselor may help a family with Cystic Fibrosis and Huntington's disease, - Things about the Disorder, Prognosis of Individual, Explain how a genetic counselor may help a family with Cystic Fibrosis and Huntington's disease, - What are some of the risk factors if know the ...

  8. Case Study

    Case Study - Cystic Fibrosis. Get a hint. What type of genetic disorder is CF and what is the pattern of inheritance? Click the card to flip 👆. autosomal recessive. single-point mutation. the common form is a missense mutation on the 508 position of the amino acid in the CFTR gene [cystic fibrosis transport regulator] Click the card to flip ...

  9. 2.2.1 Concept Map by Cristina Salguero on Prezi

    2.2.1 Concept Map By: Cristina Salguero Gene therapy Gene Therapy There are two types of Gene therapy. There is Germ-line gene therapy and Somatic gene therapy. How Gene Therapy Works How It Works Gene therapy is used to introduce genetic material that can be beneficial. This is

  10. Medical Interventions 2.2.1 test prep Flashcards

    This contains everything in the packet except the Cystic Fibrosis Study and the 2.2.2 section of the packet. ... cystic fibrosis . 29 terms. juarezsj. Preview. Genome Evolution (CHP 9) 72 terms. Dylan_Graybeal. Preview. Sanger Sequencing and Sequence Assembly Techniques. 6 terms. wthyberg225.

  11. A Case of Cystic Fibrosis (KEY) by Biologycorner

    Description. This is the answer key for the case study on cystic fibrosis where students explore how children are diagnosed with CF, how CF mutations affect transport across the cell membrane, and how two drugs can be used to treat the disease. The activity is used in AP Biology class and requires students to complete a CER (claim, evidence ...

  12. Pediatric Nursing HESI Case Study Cystic Fibrosis Flashcards

    4.5 (2 reviews) Which assessment supports the diagnosis of CF? -A fever of 102 ºF (38.9 ºC), inflammed larynx with exudate. -Eyes with redness and yellow exudate. -Weight loss and delayed growth despite a hearty appetite. -A brassy cough with inspiratory stridor. Click the card to flip 👆. Weight loss and delayed growth despite a hearty ...

  13. 2.2.1 Gene Therapy Flashcards

    Gene Therapy. the practice of inserting functional genes into a person's genome to replace faulty genes. What does gene therapy use? a vector, typically a virus, to deliver a gene to the cell where it's needed. What happens once a vector is in the inside? gene reading machinery uses the information in the gene to build RNA and protein molecules.