Huntington’s

disease
With Model of Hardy Weinberg
BY Ava Austi

AP Biology
Third Quarter Project
C Odd
History of the Disease : An
inherited disease that causes the progressive
breakdown of nerve cells in the brain
★ First recognized as an inherited disorder in
1872 when a 22-year-old American doctor,
George Huntington, wrote a paper called On
Chorea
★ Paper was later published in the Medical and
Surgical Reporter of Philadelphia and the
disorder he described became known as
Huntington's Chorea.
★ Today the term Huntington's Disease is more
commonly used than Huntington's Chorea.
SYMPTOMS
Affect on
of the
★ Cognitive: amnesia, delusion, lack of
concentration, memory loss, mental confusion, ☆ family life
High rates of family dysfunction

Disease
slowness in activity, or difficulty thinking and
understanding
☆ Adverse parenting in the form of parental and
maternal overcontrol and paternal abuse were
endorsed for both the HD-positive and HD-
★ Muscular: abnormality walking, increased negative parent
muscle activity, involuntary movements,
problems with coordination, loss of muscle, or
muscle spasms
★ Behavioral: compulsive behavior, fidgeting,
irritability, or lack of restraint
★ Psychological: delirium, depression,
hallucination, or paranoia
★ Mood: anxiety, apathy, or mood swings
★ Also common: tremor, weight loss, or
impaired voice
Causes of the Disease
★ Huntington disease (HD) is caused by a change (mutation) in
the HTT gene
○ This gene gives instructions for making a protein called
huntingtin
○ The exact function of this protein is unclear, but it
appears to be important to nerve cells (neurons) in the
brain
★ The HTT gene mutation that causes HD involves a DNA
segment known as a CAG trinucleotide repeat
○ This segment is made up of three DNA building blocks
that repeat multiple times in a row
■ The CAG segment in a normal HTT gene
repeats about 10 to 35 times
■ In people with HD, it may repeat from 36 to over
120 times
■ People with 36 to 39 CAG repeats (an
intermediate size) may or may not develop HD,
while people with 40 or more repeats almost
always develop HD
TREATMENTS FOR the Disease
★ No treatments can alter the course of Huntington's disease
★ Medications can lessen some symptoms of movement and
psychiatric disorders
○ Medication management is likely to evolve over the
course of the disease, depending on the overall
treatment goals
○ Some drugs may result in side effects that worsen
other symptoms so treatment goals and plans will be
regularly reviewed and updated
★ Interventions can help a person adapt to changes in his or
her abilities for a certain amount of time
★ Lifestyles and home remedies:
○ Therapy
○ Support groups
○ Eating and nutrition management
Identification of the Disease
★ Caused by an inherited defect in a single
gene
★ An autosomal dominant disorder, which
means that a person needs only one copy
of the defective gene to develop the
disorder.
★ With the exception of genes on the sex
chromosomes, a person inherits two copies
of every gene — one copy from each
parent
★ A parent with a defective gene could pass
along the defective copy of the gene or the
healthy copy → 50 percent chance of
inheriting the gene that causes the genetic
disorder
Bioethical considerations
★ To test or not to test
★ A right to reproduce
○ Those with HD and 'at-risk' for HD wrestle with the decision to
reproduce
★ Does an insurance company have a right to know if their client has a
terminal illness, such as HD?
Data Spreadsheet
(second sheet is
disorder)
Bibliography
● Centre for Mental Health Studies. “The Impact of Huntington's Disease.” US National Library of
Medicine National Institutes of Health , Sept. 2007.
● Dennis H. Phillips. “Huntington's New South Wales.” What Is The History Of Huntington's Disease
(HD)? , Huntington's NSW.
● “Huntington's Disease.” Mayo Clinic , Mayo Clinic Staff.
● “Huntington Disease.” National Center for Advancing Translational Sciences.
● Torrens, Rachel. “Ethical Issues Related to Huntington's Disease.” Study.com, Study.com.