Bioinformatics Activities:

• Phenylketonuria - this disease, also known as PKU, is caused by an inborn error of metabolism. PKU is autosomal recessive, which means that babies born with PKU have two abnormal copies of the gene phenylalanine hydroxylase. This gene codes for an enzyme that converts the amino acid phenylalanine to the amino acid tyrosine. A defective enzyme results in a build-up of phenylalanine. The high levels of phenylalanine result in mental retardation. The disease may be detected at birth through the routine newborn blood screening. If PKU is detected, the patient must follow a diet that restricts phenylalanine ingestion. Strict adherence to the diet is necessary to prevent the devastating effects of PKU.
  
  
  • Search for the phenylalanine hydroxylase gene. (See Directions)
  • Perform a restriction analysis. (See Directions)
  • Identify and classify known mutations of the phenylalanine hydroxylase enzyme. (See Directions)
  • Find a known mutation that alters a restriction site.
  • Devise a restriction analysis test that could be used to detect a particular defect in a gene.
  
  
• Amyloidosis - this disease is caused by an abnormal accumulation of the fibrous amyloid protein. Amyloidosis is observed in a variety of disorders such as rheumatoid arthritis, diabetes, and Alzheimers. The disorder, commonly seen in dogs, is often caused by lysozyme enzyme abnormalities. Although the disease may affect any breed of dog, the disease is more common in certain breeds of dogs. For example, beagles, collies and Shar-Peis are at greater risk of amyloidosis. The accumulation of amyloid protein can occur in any organ and interferes with the normal functions of that organ.
  
  
  • Find information about the lysozyme enzyme. (See Directions)
  • Investigate biochemical pathways. (See Directions)
  • Discover the diseases associated with the lysozyme enzyme. (See Directions)