Hello and welcome all! I am excited to share with
you what I will be researching over the next few months.
My
Senior Research Project is focused on a rare, genetic disease called
Transthyretin (TTR) Amyloidosis. This disease occurs due to point mutations in
the 127-amino acid protein transthyretin, leading to the creation of abnormal
proteins called amyloids, or amyloid fibrils, which can be deposited in any
organ or tissue. Most commonly, amyloid fibrils are deposited in the brain,
kidneys, and heart. Transthyretin amyloidosis affects approximately 8,000–10,000
people around the world; specifically in areas such as Portugal, Sweden, and
Japan, which are known as endemic regions.
There
are three forms of transthyretin amyloidosis: neuropathic, leptomeningeal, and
cardiac. Specifically, the cardiac form of transthyretin amyloidosis affects
the heart. Individuals with cardiac transthyretin amyloidosis may have
arrythmia, orthostatic hypertension, or cardiomegaly. This happens from amyloid
fibrils invading the myocardium, the muscle tissue of the heart. The invasion
leads to diastolic dysfunction, a decline in performance of one of the
ventricles of the heart. Diastolic dysfunction can cause restrictive
cardiomyopathy to occur, which ultimately leads to symptomatic heart failure.
Unfortunately,
while treatment options exist for this disease, there is no cure. The disease
is an autosomal dominant disorder where over 120 different mutations may be
present in transthyretin. However, not everyone who carries a
mutation in the TTR gene will
develop this disease and the reason why some people do not develop the disease
is not known.
My research question focuses on why
some ethnicities, like African American or Portuguese, develop this disease and
if possible, develop a more efficient treatment option for these afflicted
individuals.
