Lions, and Tigers, and Vampires! Oh My!

Vampires. No not the Edward Cullen type of vampire who sparkles when he gets in the sun and he only drinks the blood of animals because he is "vegan." I am talking about Dracula-type, who only can come out at night because the sun will kill them and they have to drink blood of humans to survive. These living-dead creatures are immortal with characteristically sharp teeth that help them penetrate the jugular of their midnight snacks. The sun basically turns them into a walking fireball that first starts out as small patches of burning that within seconds engulfs them in flame. In reality these beings do not exist (don't go to New Orleans or they will tell you otherwise), but there is a disease that mimics the vampire's sensitivity to light, fang-like appearance, and need for blood. Congenital erythropoietic porphyria (CEP) or Gunther's disease is marked with hypersensitivity to light, anemia, passing of dark colored urine. in some cases the gums recede making the teeth look fang-like.

CEP is an autosomal recessive disease that occurs when both parents have a copy of the mutated/abnormal gene and the baby inherits both abnormal version of it. The chance of passing CEP is higher in individuals who are closely related. According to Congenital erythropoietic porphyria: Insight into the molecular basis of the disease, having molecular conformation is crucial to the treatment of this disease. This disease is caused by the deficiency of uroporphyrinogen III cosynthase enzyme, expressed by the UROS gene. This enzyme is important in creating heme, which is the factor that allows your blood to bind to oxygen. Sequencing of this gene has found about  39 different mutations that could be the basis of this disease, although data on the mutations is limited. All of the mutations are either missense mutations, nonsense mutations, or frameshift mutations. In most cases, the genotype determines the different aspects of the disease and the severity of each. For example, patients who had the C73R/C73R mutations on exon 4 of the UROS gene showed very severe manifestations of the disease, while individuals with the T228M/C73R mutations showed a more milder form of the disease. However, what makes this disease hard to understand is that sometimes the genotype-phenotype is not present. Two individuals with the same mutations, P248Q/P248Q, showed a different clinical profile. (If you are not familiar with the way each of these mutations are set up (C73R/C73R), it is basically one mutation that is found on one chromatid and the other mutation is found on the other chromatid.)

Since the molecular basis of the disease is vague and confusing, only symptomatic treatment is being administered until scientist can figure out a way to treat it by gene therapy. Like vampires, individuals with this disease need blood to survive, frequent blood transfusions are given to those individuals that present with severe anemia. Bone marrow transplants are another, more beneficial, way to virtually cure the disease with the hope that the new bone marrow has a functional copy of the UROS gene.

For Further Reading:
http://eds.b.ebscohost.com.ezproxy.shsu.edu/eds/pdfviewer/pdfviewer?vid=14&sid=4a683f92-0d69-44d0-887b-5b95858acb25%40sessionmgr105&hid=127

http://www.porphyriafoundation.com/about-porphyria/types-of-porphyria/CEP