Cystic Fibrosis

HideShow resource information
View mindmap
  • Cystic Fibrosis
    • Hereditary disease caused by a faulty autosomal recessive allele in a person's genetic make-up
      • Caused by a defective CFTR gene
    • Healthy Person
      • CFTR protein actively transports chloride ions out of cells into mucus
        • Sodium ions follow out of the cells and water passes out of cells by osmosis
      • This dilutes the mucus lining the air passages to a watery consistency
      • CF Person
        • CFTR protein is blocked
          • Chloride ions cannot move out of cells, sodium ions remain and water cannot move out by osmosis
        • Mucus is thick and sticky
          • Sticky mucus builds up in internal organs that causes inflammation and infections
            • Makes breathing and digestion difficult
            • Pancreatic duct becomes blocked  preventing pancreatic enzymes reaching the duodenum so digestion is incomplete
              • Bronchioles and alveoli of the lungs become clogged which causes congestion and difficulty breathing
                • Also reduces surface increasing the distance for diffusion so not enough oxygen is absorbed
    • Gene therapy research focuses mainly on the lungs and getting the healthy genes in them
    • Treatment
      • 1. Normal gene is inserted into liposome/virus vector
      • 2. Vector is placed into an aerosol inhaler and is inhaled into the lungs
      • 3. Liposome fuses with the cell membrane of the infected cells (endocytosis)
      • 4. Gene passes through the membrane and into the cell and codes for the normal CFTR gene
      • Next step is to develop a safe, effective and efficient way of getting the healthy copy of the gene into the body of a CF sufferer with the ultimate aim of curing cystic fibrosis
    • Issues
      • Short-lived treatment - must be repeated every 30 days
      • Only a small number of genes are altered and expressed
      • Treatment doesn't solve digestive problems
      • Immune response could occur
    • Genetic Counselling
      • Helps a person or family understand their risk for genetic conditions
      • Educates the person or family about the disease
        • Assesses the risk of passing those diseases to children

Comments

No comments have yet been made

Similar Biology resources:

See all Biology resources »See all Health, illness and disease resources »