Huntington's disease: Progressive neurogenetic disease cause by repeating CAG triplets

Most people did not even hear about Huntington's disease except the ones who indulge in
genetics, biology, or medicine. Some of them maybe got interested in it after watching the
famous TV show House MD in which one of the main protagonists in the last few seasons of the
series, doctor "13" played by Olivia Wilde, suffers from this disease. Even though it is mostly
unknown to people, this disease presents a great interest for researchers because of its specific
causes and clinical manifestations.
Normally, genetic information is compiled of nucleotides. Three consecutive nucleotides make
one triplet. One triplet represents a "code" for one unique amino acid. Aminoacids then unite
and build proteins which are crucial for almost all cellular processes. Since nucleotides can
have four different heterocyclic bases they are divided into four groups named after the
heterocyclic base which is contained in them: A (adenine), C (cytosine), G (guanine), and T
(thymine). People with Huntington's disease have consecutive, repeating CAG triplets. They
normally should not be repeated, but when they are, they represent a "code" for the synthesis of
a protein named huntingtin. This protein could have normal physiological functions but it causes
a lot of specific and progressive symptoms in people affected by the disease.
Huntington's disease symptom manifestation usually begins with mild symptoms as problems
with body balance, speech problems, or shaking hands. As soon as the first symptom appears,
others appear faster and faster and the existing symptoms worsen. Usually, a person with
Huntington's disease can live up to 15 years after the manifestation of the first symptom. In their
last years, affected patients usually can't sit or stand still since their whole body is shaking. They
hardly eat since they lose control over their facial muscles. Because of these characteristic
movements of the body, Huntington's disease is also called Huntington's chorea from the greek
word χορεία (khoreía) which means dancing. Patients also have many psychological symptoms.
They tend to be aggressive and suicidal. Also, their memory suffers.
The reason for mentioned clinical manifestations is the protein huntingtin which destroys nerve
cells, especially the ones in the cerebrum (great pyramidal neurons) and cerebellum (Purkinje
cells). These cells normally initiate, coordinate, and control muscular movements of the body
and it is pretty clear what is the link between the destruction of these nerve cells and symptoms
of the disease.
Huntington's disease can be inherited. If a person has this disease, there is a 50% chance for
their children to also have it. The unique thing about inheriting this disease, compared to other
genetic disorders, is that not only children can inherit it from parents but they have a great
chance of developing more expressive symptoms and they usually appear earlier than they
appeared when it comes to their parents. This phenomenon is called anticipation. Anticipation
appears because when passed on to the next generation, the number of repeating CAG triplets
increase. Through the generations, it can increase up to 120 repeating CAG triplets
Unfortunately, there is no cure for this disease but researchers are trying to consider gene
editing therapy for Huntington's disease. There are currently only available certain treatments
whose goal is to make living easier for patients. For example, they are given antidepressants to
fight their suicidal and depressive tendencies. A specific food is also produced for many which
have a lot of calories in small portions since patients have difficulties with eating and swallowing
food. Still, these treatments can not stop the disease and it, unfortunately, progressively leads to
death.