To Disease or Not To Disease?

It’s very ironic how I’m writing this post as my uni seems to be in the middle of a turf war involving a norovirus, the flu, and some other general cold. My objective has been to avoid becoming collateral damage, and so far so good. So here I am in the middle of a very vacant library, in the middle of studying for a biochemistry exam and a rough draft of a cell biology paper. The snow has fallen to remind us all that it is indeed winter. As much as people love watching the snowflakes dance in the dim lighted sky while staying warm and cozy by a fire, there are those who always seem to get sick this time of year. Diseases, when not causing you to be bedridden, are quite fascinating to study. Let me pull back the curtain and reveal to you some topics that I have considered looking into further:

  1. Zellweger Syndrome – This condition is classified as an autosomal recessive systemic disorder that causes craniofacial abnormalities, severe neurologic dysfunction, and lack of peroxisomes. This syndrome is seen to be the most severe end of spectrum that share overlapping features with  neonatal adrenoleukodystrophy (NALD) and Refsum disease (IRD). Zellweger syndrome can be brought on with a mutation in any of several genes known as pexins that are involved with peroxisome biogenesis.
  2. Von Willebrand Disease – The disease is an inherited bleeding disorder where the blood glycoprotein Von Willebrand factor (VWF) levels are deficient. VWF is responsible for mediating the adhesion of platelets to vascular damage locations. A mutation in the VWF gene will disrupt to complexation of its subunits or compromise its specific ligand binding sites.
  3. Hartnup Disease – Also known as pellagra-like dermatosis. This disease is an autosomal recessive metabolic disorder. It  diminishes the body’s ability to absorb certain amino acids (tryptophan, alanine, serine, and methionine) from the intestine and reabsorb them from the kidneys.  Neuropathological examination of a patient afflicted showed severe diffuse atrophy, generalized neuronal loss in the cortex, and Purkinje cell loss in the cerebellum.

All three of these diseases are nasty pieces of work that have a genetic component to it.  Though the best way to compact these diseases and save lives is to fully study and  understand how the disease works. Time to drive into the literature and expose the complexity of these conditions.

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