Autosomal

Dominant Disorders

Zeina mallat 1900003

Diana Fawzy 1802328
 Important keywords:
o Phenotype: a physical feature observed by the naked eye
o Genotype: the part of the genetic makeup of a cell
o Allele: a variant form of a gene
o Homozygous: particular gene that has identical alleles on
both homologous chromosomes
o Heterozygous: different forms of a particular gene from
each parent
• Heredity is a broad topic by itself.
• The human body posseses 46
chromosomes 22 pairs of autosomes
and 1 pair of gonosomes.
• A trait or disorder can be passed
down through families as alleles on
either autosomes or gonosomes.
• Gene inheritance could be either
autosomal dominant, autosomal
recessive, X-linked, Y-linked, or
mitochondrial.
 Autosomal Dominant
• expressed even in the
heterozygous state.

• One abnormal gene causes

disease.

• A child with sick parents has

50% chance of being affected.
Huntington
disease is a
progressive brain 
disorder that causes
uncontrolled
movements,
emotional
problems, and loss
of thinking ability
• Now what happens if only one of the parents are
carrying the allele for Huntington?
1.How do you acquire this
disease?
a) DNA mutation which is the
repetition of the CAG
trinucleotide from 36 to 120
times
b) This abnormally long protein is
what codes for Huntington
2. What are the symptoms?
a) fidgeting, twitching in fingers and toes;
b) excessive restlessness;
c) alterations in handwriting;
d) trouble swallowing
e) difficulty with normal daily physical skills
like driving.
3. How does it affect the brain? 4. How is it diagnosed?
a) protein is cut into smaller, a) medical history,
b) toxic fragments bind together b) physical examination,
c) accumulate in neurons, c) laboratory tests (urine test)
d) Disrupt normal functions of these cells d) computed tomography (CT)
e) Destruction of neurons in the basal e) magnetic resonance imaging (MRI)
ganglia and the cerebral cortex.
 No treatment is available
 Antidepressants can be used
 Antipsychotic drugs (haloperidol) or
benzodiazepines (diazepam or
clonazepam) may help with
movement.
 occurs between the ages of 2 and 70
years but usually at age 30 to 40.
 30K people have this disease in the
US.
 At least 150K have a 50% chance of
getting it
 Familial hypercholesterolemia

• causes LDL (bad) cholesterol level

to be very high.
• begins at birth and can cause
heart attacks at an early age
• genetic disorder caused by a
defect on chromosome 19.
• passed down through families in
an autosomal dominant manner.
1. What are the Symptoms?
•Fatty skin deposits called xanthomas over parts of the hands,
elbows, knees, ankles and around the cornea of the eye

•Chest pain (angina) or other signs of coronary artery disease

 may be present at a young age

•Cramping of one or both calves when walking

• Sores on the toes that do not heal

•Sudden stroke-like symptoms such as trouble speaking,

drooping on one side of the face, weakness of an arm or leg,
and loss of balance
 2. How do you diagnose it?
1. physical exam may show fatty skin growths called xanthomas and cholesterol deposits in
the eye
2. personal and family medical history
3. Genetic test
4. blood tests done to
determine lipid levels.
 Blood tests may show:
•High level of total
cholesterol
•High LDL level
•Normal triglyceride levels
3. What causes this disease?
I. Different short insertions in the LDLR gene
4. What is the treatment?
1. healthy low-fat diet
•Reducing the amount of saturated fat in your diet

•Consuming soluble fiber oats, peas, beans, apples,

citrus fruits and carrots

•Increasing physical activity

•Maintaining a healthy body weight

2. Common medication choices include:

•Statins
•Cholesterol absorption inhibitors. 
•Combination cholesterol absorption
inhibitor and statin. 
•Injectable medications.
THANK YOU