Genetic diseases
Using the listed Genetic diseases below, how can you briefly and concisely
describe and define these diseases? What specifically does this Genetic Disease affects normal DNA mechanisms? Is it in DNA Replication, DNA repair, Transcription, or Translation? How would it affect significantly? What faulty mechanisms are involved in each of these diseases?
List of Genetic Diseases :
-Huntington disease
-Xeroderma pigmentosum
-Hereditary non-polyposis colon cancer (HNPCC)/Lynch Syndrome
-Hereditary breast cancer
-Li-Fraumeni syndrome
-Beta-thalassemia
-Sickle-cell anemia
EXAMPLE:
Amanita Poisoning
Brief Description
Amanita phalloides or death cap mushroom is responsible for this poisoning and a complicated or even fatal outcome is more likely. General symptoms of mushroom poisoning often include chills, myalgias, and headache. Mushroom toxins may also produce a variety of neurologic, renal, or hepatic syndrome.
Etiology of Genetic Disease: Transcription
Amanita phalloides contains amatoxins and is a thermostable toxin. Amatoxins are bicyclic octapeptides that are transported to the nucleus and inhibit RNA polymerase II, preventing DNA transcription, resulting in cessation of protein synthesis. These toxins target hepatocytes, crypt cells, and proximal convoluted tubules of the kidney via inhibition of protein synthesis.
References
Carrie A. Palm DVM, DACVIM, Kayo Kanakubo DVM, in Small Animal Critical Care Medicine (Second Edition), 2015
Manu M. Sebastian, in Veterinary Toxicology, 2007
Vernon Ansdell, in Travel Medicine (Third Edition), 2013