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Definition Of A Genetic Disease

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November 18, 2014 MBBB 493 Written Report The definition of a genetic disease given by medicalnet.com is “any disease that is caused by an abnormality in an individual’s genome”(Mednet, 2014). Usually, the abnormality can be caused by a small mutation in the DNA gene or an “entire set of chromosomes”. There are four different types of inheritance for genetic disease, which are: Single Gene Inheritance, Multifactorial inheritance, Chromosomal Abnormalities, and Mitochondrial Inheritance. Some examples of the single gene inheritance would include cystic fibrosis, sickle cell anemia, and Huntington’s disease all of which mutations have occurred in a single gene in the DNA. “Cystic Fibrosis affects cells that produce mucus and digestive juices which in result turns these cells into thick cells which clog up air pathways in the lungs and pancreas” (MayoClinic, 2012). Currently, there is no cure for CF but there are treatments given to patients that improve their health. “Most patients with CF carry the F508del CFTR mutation, which causes defective CFTR protein folding and processing in the endoplasmic reticulum, resulting in minimal amounts of CFTR at the cell surface” (Pubmed, 2011). One way to treat the F508 mutation is to fix it with small molecules such as using VX-809, which is the corrector to treat cystic fibrosis. “In cultured human bronchial epithelial cells isolated from patients with CF homozygous for F508del, VX-809 improved F508del-CFTR processing in the

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