Author: John Hanna
One of the many perils of studying biochemistry is that we get to navigate the complexity of life from both “bottom-up” and “top-down” perspectives. We no longer become content with learning “what” things are, but rather strive to understand how things occur in biological systems at the chemical and molecular levels. Personally, I have always found this gratifying, especially when it comes to learning about infectious diseases in humans. In particular, I had always been intrigued by the complexity of certain diseases, and have strived to learn more about them.
The first disease that I am concerned about is Parkinson’s disease. This progressive disease is characterized by gradual loss in mobility and muscle tremors, most apparent in individuals that are above 50 years of age. The direct cause of this disease is still not fully understood, as it has been linked to decreased dopamine levels in some cases, and damage to the nervous system (dementia) in others.
The second disease I would like to research is Gaucher’s disease. What is interesting about this disease is that it could take either a neuronopathic form or a non-neuronopathic form. This disease is characterized by metabolic defects through an inherited deficiency of glucocerebrosidase due to mutations in the GBA1 (acid-β-glucosidase) gene. Out of all of the lysosomal storage disorders (LSDs), this disease remains the most prevalent worldwide.
The third disease I would like to look into is cystic fibrosis. This disease affects 70000 people worldwide, and leads to dangerous symptoms such as inflammation and tissue damage in the lungs. Research has linked this disease to mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
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