Question

1. Describe the genetic defect in cystic fibrosis

2. How does the underlying genetic defect in cystic fibrosis lead to pulmonary and exocrine gland dysfunction?

Answer 1

ANSWER.

1,Genetic defect in cystic fibrosis.

    * A membrane protein and chloride channel present in the human

       is known as cystic fibrosis transmembrane conductance regulator

       (CFTR).

   * CFTR proteins consist of CFTR genes.

   * CFTR genes are responsible for transport of chloride ions across the

     epithelial membrane.

   * In cystic fibrosis mutations occur in the CFTR gene which result in

changes in the chloride iron channel function and fluid transport across

      the epithelium.

2, Mutation of CFTR genes in cystic fibrosis result in changes in the normal

    regulation of epithelial fluid transport in the lungs,exocrine glands and other

    organs in the body.

    Which leads to thick and sticky mucus production in the pulmonary system

    and exocrine glands.

    Presence of thick mucus in the lung and exocrine glands leads to pulmonary

    and exocrine dysfunction.