Huntington's disease -

Why does division go

wrong?

Rahaf Mohammed Hamid Al Marwani – 441007100

Dr. Ruua, Dr. wiam
summary:
With time, Huntington's disease impairs several brain functionality
areas. It is something that a person inherits from their parents.
It frequently becomes deadly after up to 20 years of progressively
worsening symptoms.

- About Huntington's disease

One faulty gene on chromosome 4—one of the 23 human
chromosomes that contain a person's full genetic code—causes
Huntington's disease, a degenerative brain condition.

Anyone who inherits this "dominant" flaw from a

parent who has Huntington's disease will
ultimately get the condition. George Huntington,
M.D., the doctor who initially identified the
condition in the late 1800s, is honored with the
disorder's name.

A protein called huntingtin is made possible by a faulty gene.

Though its typical role is unknown, the protein is known as
"huntingtin" since research has linked Huntington's disease to a
faulty version of the protein. Erratic involuntary movements, a sharp
reduction in thinking and reasoning abilities, impatience, sadness,
and other mood disorders are all brought on by defective huntingtin
protein.
Symptoms:
A protein called huntingtin is made possible by a faulty gene.
Though its typical role is unknown, the protein is known as
"huntingtin" since research has linked Huntington's disease to a
faulty version of the protein. Erratic involuntary movements, a sharp
reduction in thinking and reasoning abilities, impatience, sadness,
and other mood disorders are all brought on by defective huntingtin
protein.

Diagnosis:
In 1993, researchers discovered the faulty gene that causes
Huntington's disease. Genetic testing may now be used to
diagnose diseases. The test can identify the defective gene in
people who do not yet exhibit symptoms but are at risk for
developing Huntington's disease because a parent has the
condition. It can also confirm that the huntingtin protein
defective gene is the cause of symptoms in people with
suspected Huntington's disease.

Professional genetic counseling is strongly advised before to and following a

genetic test for Huntington's disease, according to experts.

Causes and risks:

Virtually every case of Huntington's disease is caused by the faulty
gene discovered in 1993.

A little region of chromosome 4 has excess copies of one chemical

code, which is the cause of the huntingtin gene deficiency. Among its
more than 3,100 codes, the typical huntingtin gene repeats this
code 17 to 20 times. There are 40 or more repetitions in the
abnormality that causes Huntington's disease. The number of
repetitions found in a person's huntingtin protein gene is counted
during genetic testing for Huntington's disease.

Treatment:
Huntington's disease has no known treatment and there is no way to
prevent it from becoming worse.

However, assistance and therapy can lessen some of the issues it

creates, including:

• medications for uncontrollable

movements, mood swings, and
depression
• Speech and language therapy for
food and communication issues
• occupational therapy to facilitate
daily duties
• physiotherapy to assist with
balance and mobility

reference:
1. https://www.nhs.uk/conditions/huntingtons-disease/
2. https://www.alz.org/alzheimers-dementia/what-is-dementia/types-
of-dementia/huntington-s-disease