Journal of Undergraduate Research


cancer, gene expression, genetic diagnosing


Physical and Mathematical Sciences




Genetic diagnosing is becoming more popular, as well as more and more accurate. However, many genetic diseases have complex genetic effects and are still not fully understood. Transthyretin Amyloidosis (ATTR; also known as familial or hereditary amyloidosis) is a terminal genetic disease. It is caused by unstable transthyretin proteins that fold improperly, and then deteriorate. The fragmented proteins are deposited outside of the cell and build up in the tissues over time, forming insoluble oligomers. The oligomers continue to grow into Amyloid fibrils, which adversely affect many organs in the body, eventually causing their failure. In order to accurately diagnose, doctors need to perform tissue and bone marrow biopsies, and both need to be positive for amyloid fibrils. Once those are positive, patients must be tested to make sure that these are fibrils caused by amyloids by ruling out all other possible diseases and causes. The main current treatment for ATTR is tafamidis. This drug stabilizes the correctly folded TTR protein and slows down the progression of amyloid fibril formation. Another option is organ transplantation, and usually both are recommended. The worst mutation is the Val30Met because it leads to fatality more quickly. Unfortunately, it is also the most common mutation.