Download What is Huntington`s Disease?

Did You Know? Due to Huntington’s
Disease being an autosomal dominant
disorder – if one parent has the gene, their
children have a 50% chance of inheriting
the gene. Everyone with the gene
eventually develops symptoms.
Prognosis
Forms of Huntington’s
Disease:
o Juvenile Huntington's Disease - Children
HUNTINGT
and teenagers have this rare form of
Huntington's disease. Symptoms remain
What is the available
Treatment?
There is no existing cure that alters
the disease’s course. However, patients can
similar to adult-onset Parkinson's disease.
Problems are more often than not
developed with schoolwork and mental
progression.
o Adult-onset Huntington's Disease - The
be prescribed drugs that help lessen the
most common form of Huntington's
psychological and physical ailments
disease. Symptoms are developed in an
associated with the disorder.
individual’s mid-40s and 50s.
Who is affected/how
common is it?
ON’S
A progressive
neurodegenerative
DISEASE
disorder caused by a
single gene
mutation.
Patrick Shaw & Marcello Orlando
References:
- https://ghr.nlm.nih.gov/gene/HT
T#conditions
- https://stanfordhealthcare.org/m
What Causes Huntington’s
Disease?
All of our bodies contain HTT genes. HTT
genes are responsible for producing the protein
huntingtin found predominantly in the neurons of
our brains. Within the amino acid sequence of the
HTT gene, there is a cytosine, adenine, and
guanine amino acid sequence that is repeated
What is Huntington’s
Disease?
Huntington disease is a
progressive brain disorder that causes
uncontrolled movements, emotional
problems, and loss of cognition.
Signs and Symptoms:
Cognitive - amnesia, delusion, memory
loss, mental confusion, or difficulty
thinking and understanding
between 10-35 times within a normal HTT gene’s
code. In a mutated mHTT gene, the (CAG) amino
acid sequence is repeatedly transcribed over and
over, to the point that the brain produces a
containing 32 repeats of the (CAG) amino
acid sequence. Prior to fertilization of her
soon-to-be-born son, her (CAG) sequence
has repeated to be 35 segments long. Her
son will be born with an HTT
What Number of Sequence
Repeats Yield Huntington’s
Disease?
o
27-35 (CAG) repeats – do not
develop Huntington’s Disease, but a
excess of huntingtin is believed to cause the
good possibility remains that their
neurological and physiological symptoms
children may
associated with Huntington’s Disease.
o
36-39 (CAG) repeats – may or may
not develop symptoms
How Do These Transcription Errors
Affect Future Generations?
o
increased muscle activity, involuntary
dominant fashion – meaning that if one parent
movements, problems with coordination,
holds the mutated gene, their offspring receive a
or loss of muscle
50% chance of picking up the mutated HTT gene.
Behavioral - acting compulsive,
fidgeting, irritability, or lack of restraint
gene that has 35 (CAG) sequences and will
Psychological - delirium, depression,
continue to repeat as he grows up.
What’s remarkable about the mHTT gene is that
the extra amino sequences of (CAG) within the
40-50 (CAG) repeats – oftentimes
yields Adult-onset Huntington’s
I’m glad you’ve asked! The altered mHTT
gene is passed down to offspring in an autosomal
Mood - anxiety, or mood swings
A female is born with an HTT gene
dangerous amount of the protein huntingtin. This
Muscular - abnormality walking,
hallucination, or paranoia
Example
Disease
o
60+ (CAG) repeats – oftentimes
yields Juvenile Huntington’s Disease