Huntington’s disease is a genetic
neurodegenerative disease that occurs in adults causing psychiatric symptoms, dementia,
and involuntary movements. It is caused by a single gene mutation, which
triggers the release of a mutant protein. In 1993 the mutated gene was
identified however it was not till recently that a new test has been found that
can quantify the amount of protein buildup in patients with Huntington’s
disease. The international team of scientists from IRBM Promidis, University of
British Columbia, CHDI Foundation, and University College London created a test
that can detect the Huntington’s protein in Cerebrospinal Fluid (CSF) using
Singulex SMC Technology Erenna Immunoassay system. The test can even measure
protein build up in patients who have not yet experienced any symptoms yet. The
CSF is collected through a lumbar puncture or spinal tap and then the protein
can be measured from the fluid. The protein is released into the CSF from the
brain cells it is killing, and is referred to as the “smoking gun” which
displays how much damage it has done to the patient. The higher the amount of protein
detected in the CSF the more the disease has progressed.
Although there is no treatment yet for
Huntington’s there are a few human trials on drugs, which reduce production of
the proteins, to be starting in the near future. With this test it will be
possible to tell if the drug is affective against Huntington’s disease and
hopefully assist in finally finding a cure for the disease. This article proves
how we are constantly making great improvements in medicine, and leaves hope
for those who previously were offered none. Huntington’s disease was a death
sentence and soon it may no longer be.Related Article
I am sure that in the near future there will definitely be a cure for this disease. Like you said, this disease is a death sentence. If they can conduct a test to detect how much protein buildup there has been, they can definitely find the cure.
ReplyDeleteI find this article to be extremely interesting, especially because I recently discovered that Huntington's Disease runs in a part of my family. Identifying the location and concentration of the mutated Htt protein sounds like a huge step towards finding the mechanism behind this disease. Hopefully, the drug trials will be successful, eventually leading to a cure.
ReplyDeleteI believe that due to the severity of the disease the cure will be found much sooner than originally assumed. I have recently found one of my good friends has Huntingtons Disease running in their family Carleigh, and she has stated multiple times how research should be much closer to finding a cure and once reading this article she has much more hope for future generations.
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