GENETIC

MUTATIONS
KOGA AND FELOMINA (PT NO 3-4)
REMEMBER:
A gene is a section of DNA (genetic code).

Our genetic code is a blueprint for our bodies.

Just like how different LEGO blocks can create
different structures, our DNA determines how
our bodies are built and function.
 WHAT IS A GENETIC
MUTATION?
A genetic mutation is a The four nucleotides are:
Adenine (A)
change that occurs in our
Cytosine (C)
DNA code (sequence of
Guanine (G)
nucleotides). Thymine (T)
Sometimes, mistakes happen
during the DNA copying
process, leading to changes
called mutations.
 WHAT CAUSES
MUTATIONS?
Errors in DNA replication during cell division.

Exposure to mutagens (radioactive substances, x-

rays, ultraviolet radiation and certain chemicals).

Viral infections and other infectious agents.

 INSERTION
MUTATION
How can we define the insertion mutation? and what is
insertion mutation really is?

insertion mutation happen when extra pairs are inserted

into a new place
 WHAT ARE INSERTION
MUTATIONS?

Insertion Mutations when extra

nucleotides are put into a DNA
sequence, making it longer than it
should be
 INSERTION DISEASE
"HUNTINGTON'S DISEASE"
Huntington disease are one of the example of insertion
mutation

Huntington's disease (HD) is named after George

Huntington, who described it among residents of East
Hampton, Long Island in 1872
Common Symptoms of Huntington's Disease
 WHAT IS HUNTINGTON'S
DISEASE?
Huntington’s disease is a rare progressive genetic degenerative disorder that
affects the nervous system. Huntington's disease affects brain cells, called
neurons and this degeneration affects the whole brain, but certain central
area of brain called basal ganglia are more vulnerable than others.

The degeneration causes movement disorder (uncontrolled movements or

Chorea), loss of intellectual faculties (cognitive defects), and emotional
disturbance (psychiatric symptoms).
WHAT ARE THE SYMPTOMS
OF HUNTINGTON'S DISEASE
SYMPTOMS?
Symptoms of Huntington’s disease usually appear around
middle age, though cases in children as well as older
individuals have been reported. Juvenile Huntington’s disease
is characterized by the appearance of symptoms before the
age of 20 years. These patients have behavioral symptoms,
learning disabilities and epileptic fits.
THE SEVERITY OF SYMPTOMS VARIES
AMONG INDIVIDUALS AND INCLUDE:
Abnormal movements: The characteristic sign of Huntington’s disease is
involuntary movements especially in the fingers, toes and facial muscles.
These movements are called chorea. Huntington’s disease is also sometimes
called Huntington’s Chorea as the movement appears like a dance ("Chorea"
is the Greek word for dancing.) However chorea is also seen in other
neurological conditions. These are noticed when the patient is awake.
Movements of the facial muscles include involuntary lifting an eyebrow,
closing an eye, pouting of lips etc..
THE SEVERITY OF SYMPTOMS VARIES
AMONG INDIVIDUALS AND INCLUDE:
Psychiatric disturbances: Psychiatric symptoms include feeling of depression,
low self-esteem, guilt, anxiety, mood swings, obsessions and compulsions,
irritability, and aggressiveness. Psychotic symptoms like hallucinations may
also occur. The risk of suicide is high in these patients.
THE SEVERITY OF SYMPTOMS VARIES
AMONG INDIVIDUALS AND INCLUDE:

Cognitive decline: Cognitive decline is observed in patients with Huntington’s

disease. There are problems with perception, awareness, thinking and
judgement. Dementia or forgetfulness is common, though it may be mild in
some patients. Patients slowly lose their ability for judgement, planning and
mental adjustments.
 THE STAGES OF HUNTINGTON’S
DISEASE PATIENTS CAN BE DIVIDED
INTO TWO:

Preclinical stage: In this stage, the patient does not suffer from the
condition. However, he is aware that his family member has the condition
and he is also likely to suffer from it. He may even get a gene test done,
which may confirm the presence of the defective gene. Some changes may be
noted, but the patient is still uncertain of what will ensue.
 THE STAGES OF HUNTINGTON’S
DISEASE PATIENTS CAN BE DIVIDED
INTO TWO:

Clinical stage: The clinical stage is characterized by the appearance and

progression of symptoms. The patient is initially independent, but as the
condition worsens, is completely dependent on caregivers.
 HOW DO WE TREAT
HUNTINGTON’S DISEASE?
Though Huntington’s disease cannot be cured, there
are several drugs, which can be used to treat the
symptoms and provide some relief to the patient.
Some of these are listed:
 Drugs used to treat chorea or abnormal movements include:

HOW DO WE TREAT
Tetrabenazine – It is the first drug to be approved in the United States for
HUNTINGTON’S Huntington’s disease
Tiapride
DISEASE?
per se.

Olanzapine
Pimozide
Risperidone
Fluphenazine
Drugs to treat depression include:

Citalopram
Mirtazapine
Fluoxetine
 HEALTH TIPS

Since Huntington’s disease cannot be prevented or cured,

there are no health tips that can be offered to the
patient. The caregivers however are advised to join
support groups where they can share their experiences
and resolve any issues in the care of the patient.
DUCHENNE MUSCULAR
DYSTROPHY
What does exactly Duchenne Muscular
Dystrophy really mean? and how can
we define it?
 Duchenne Muscular Dystrophy

It is another example and part of

the insertion mutation.
 DUCHENNE MUSCULAR
DYSTROPHY
It is characterized by progressive muscle degeneration and
weakness due to the alterations of a protein called
dystrophin that helps keep muscle cells intact. DMD is one
of four conditions known as dystrophinopathies
WHAT ARE THE SYMPTOMS OF
DUCHENNE MUSCULAR
DYSTROPHY ?
Muscle weakness is the principal symptom of DMD. It
can begin as early as age 2 or 3, first affecting the
proximal muscles (those close to the core of the body)
and later affecting the distal limb muscles (those close
to the extremities).

Usually, the lower external muscles are affected before

the upper external muscles
WHAT CAUSES OF DUCHENNE
MUSCULAR DYSTROPHY?
In 1987, the protein associated with this gene was
identified and named dystrophin. Lack of the
dystrophin protein in muscle cells causes them to be
fragile and easily damaged.
 Can we cure this disease ?
There is no cure for the disorder, and all
the treatments are palliative. Palliative
care physicians and nurses are eventually
needed. The most important thing is to
ensure that the patients lead a decent
quality of life. Aggressive treatments may
often do more harm than good.
 REFERENCE/LINKS:
https://www.medindia.net/health/conditions/huntingto
ns-disease.htm
https://www.drugdiscoverynews.com/a-gene-therapy-
hope-for-halting-huntington-s-disease-15759
https://www.icliniq.com/articles/neurological-
health/huntington-s-disease
https://www.ncbi.nlm.nih.gov/books/NBK482346/#:~:text=Duchenne%20mu
scular%20dystrophy%20(DMD)%20is%20one%20of%20the%20most%20sev
ere,muscle%20fiber%20degeneration%20and%20weakness.