Single Gene Disorder

January 9th, 2017

Alex Aguilar, Dakota Purcell, Yasmeen Atempa, Vivian Chavez & Enrique
How to classify Single Gene Disorder
When a certain gene is known to cause a disease, we refer to it as a single gene disorder or a Mendelian disorder.
These disorders involve mutations in the DNA sequences of single genes. As a result, the protein the gene codes for
is either altered or missing.

-follows mendelian inheritance

Adenosine Deaminase (ADA) Deficiency
This mutation occurs in a gene in chromosome 20. That specific gene codes for the
enzyme Adenosine Deaminase. When the body does not have this specific enzyme, it is
rendered unable to break down the toxic substance deoxyadenosine. The toxin builds up
and destroys infection-fighting immune cells called T and B lymphocytes. ADA is an
autosomal recessive disorder. Meaning it derives from a chromosome not in charge of sex,
and can only be inherited if both parents pass a copy of the defective gene to their child.
Symptoms? (ADA)
a. Infection. Including;

Respiratory

Skin

Gastrointestinal tract

B. - shorter than average height

Unfortunately babies with this disease dont survive any longer than a few months.
Treatable? (ADA)
There is no permanent treatment as of yet, but there are ways to ameliorate ADA levels
and to aid the improvement of the immune system. On the bright side, this disease is
extremely rare.

Viable ways;

- Bone marrow transplantation from a biological match (for example, a sibling) to

provide healthy immune cells
- Transfusions of red blood cells (containing high levels of ADA) from a healthy donor
- Enzyme replacement therapy, involving repeated injections of the ADA enzyme
- Gene therapy - to insert synthetic DNA containing a normal ADA gene into immune
cells
Alpha-1 Antitrypsin Deficiency

The Serpina1 gene provides instructions for the Alpha-1 Antitrypsin Deficiency. When this
gene is mutated, it paralyzes the alpha-1 Antitrypsin protein so it becomes stuck in the
liver and cannot pass to the bloodstream. Thus, without this specific protein the lungs
become vulnerable to attack by neutrophil elastase. The accumulation of alpha-1
antitrypsin can also damage the liver. AAD is also an autosomal recessive disorder.
Alpha-1 Antitrypsin Deficiency/ Symptoms?

- Damaged alveoli

- shortness of breath

- coughing/ wheezing

- emphysema, asthma, or chronic bronchitis

- Liver damage
Treatable?
To treat this, the patient may want to augmentate their level of the Alpha-1 Antitrypsin
protein. Ergo; augmentation therapy. This does NOT cure the illness, but slows down the
progression.
Cystic Fibrosis
In cases where the single cell gene is hereditary, cystic fibrosis can occur. This disorder
affects the respiratory and digestive systems. People with cystic fibrosis inherit an
ineffective gene on chromosome 7 called CFTR. (cystic fibrosis transmembrane
conductance regulator.) This gene moves salt in and around cells. When it ceases to work
effectively the gene is blocked producing a thick mucus on the outside of the cell. This
mainly affects the lung cells. It clogs the airway and increases the probability of infection.
The thick mucus also blocks ducts in the pancreas, so digestive enzymes can't get into the
intestines. Without these enzymes, the intestines cannot properly digest food. People who
have the disorder often do not get the nutrition they need to grow normally. This is a
recessive disorder. Carriers do not suffer from the disease but have the potential to carry it
on to their children.
Symptoms?
- coughing/ wheezing

- Respiratory illnesses (pneumonia, bronchitis)

- Low weight

- Salty tasting skin

- Greasy stools
Treatable?
Not treatable, but there are treatments to help expand the patients lifetime.

Common treatments include:

Chest physical therapy, in which the patient is repeatedly clapped on the back to free up
mucus in the chest
Inhaled antibiotics to kill the bacteria that cause lung infections
Bronchodilators (also used by people with asthma) that help keep the airways open
Pancreatic enzyme replacement therapy to allow proper food digestion
Gene therapy (a treatment currently in clinical trials), in which the healthy CFTR gene is
inserted into the lung cells of a patient to correct the defective gene
Galactosemia (Chromosome 9)
A disorder that affects the bodys ability to break down galactose.

Galactose is a food sugar found in milk and other dairy products

The human body breaks lactose into galactose and glucose and uses the sugar for
energy.

Most people with galactosemia are missing the GALT enzyme.

The GALT enzyme helps break down galactose

Defects in the galactose break down cause toxic chemicals to build up in the cells of the
body.
Galactosemia (Chromosome 9)
How people get it: it is passed down through an autosomal recessive pattern.

Symptoms: kidney failure, an enlarged liver, cataracts, poor growth, and

intellectual disability.

Diagnosis: babies are tested at birth for galactosemia at birth, which allows for
prompt treatment.

Treatment: dietary restrictions (must stay away from foods and drinks with
galactose)
Huntingtons Disease (Chromosome 4)
Huntington's Disease (HD) is a brain disorder that affects a person's ability to
think, talk, and move.

The disease destroys cells in the basal ganglia, the part of the brain that
controls movement, emotion, and cognitive ability.

Symptoms: poor memory, depression and/or mood swings, lack of coordination,

twitching or other uncontrolled movements, and difficulty walking, speaking,
and/or swallowing.

People with HD have an abnormally high number of CAG triplets, approximately

40 or more.
Huntingtons Disease (Chromosome 4)
How people get it: Huntington's disease is inherited in an autosomal dominant
pattern. This means that everyone who inherits the faulty gene will eventually
get the disease.

Symptoms: poor memory, depression and/or mood swings, lack of coordination,

twitching or other uncontrolled movements, and difficulty walking, speaking,
and/or swallowing.

Diagnosis: taking a sample of fluid from around the fetus, or by taking a sample
of fetal cells from the placenta

Treatment: Medications ease feelings of depression and anxiety; others control

involuntary movements.
Maple Syrup Urine Disease (Chromosome 19)
MSUD is a potentially deadly disorder that affects the way the body breaks down
three amino acids: leucine, isoleucine, and valine.

People with MSUD have a mutation that renders one of the 6 proteins that helps
break down the amino acids.

They end up with dangerously high levels of these amino acids in their blood,
causing the rapid degeneration of brain cells.

If it is untreated, it can lead to death.

Maple Syrup Urine Disease (Chromosome 19)
How do people get it: MSUD is inherited in an autosomal recessive pattern.

Diagnosis: babies are screened for MSUD within 24 hours after birth. A blood
sample is then taken from their heel to test for high leucine levels.

Symptoms: loss of appetite, fussiness, and sweet-smelling urine

Treatment: dietary restriction of the amino acids leucine, isoleucine, and valine.
Neurofibromatosis type 1 (NF1)?
What is it?

- It is the growth of a non cancerous tumor called neurofibromas caused by a mutation

in Chromosome 17

How do people get it?

- Inherit from their parents

What are the symptoms?

- Spots around their body the color of coffee, bone defects, scoliosis and more.

How is it treated?

- There is currently no cure but surgery is about to remove some of the tumors
What is Pachyonychia Congenita (PC)?
What is it?

- A rare genetic disorder that affects the hair, skin and nails on chromosome 12 and 17

How do people get it?

- It has a predictable pattern of inheritance, people have 1 in 2 chance of passing it to

their children every time they conceive, happens in embryonic development

What are the symptoms?

- Thick nails, painful blisters and thick calluses on the bottoms of the feet

How is it treated?

- There is currently no cure, it is mostly managed by themselves by clipping nails nad

wearing different shoes etc
Phenylketonuria

Phenylketonuria is a rare metabolic disorder that affects the way your body
breaks down protein.

This Disorder is caused by a mutation in the Gene 12.

People get this disorder by inheritance of mutations in both copies of the gene
to develop symptoms

Symptoms? - babies no symptoms at first but if they are untreated, then it

causes severe damage in the brain.

How is it treated? - People who have this must have a diet of low protein,
because all proteins contain Phenylalanine.

PKU is an autosomal recessive disorder

What is Severe Combined Immunodeficiency?
Rare and potentially fatal

Happens in the immune system which leaves these people open to many
dangerous infections.

Males are more common to get them than females.

Symptoms usually appear on the first month of life. Where babies get multiple
infections one after the other.

This can be diagnosed before a baby is born by taking cells from the placenta or
on the first month of life babies get tested with the immune function test and a
blood test.

Treatment- bone marrow transplant

Sickle Cell Disease
What is sickle cell disease?Is a disorder which affect the red blood cells

What are the symptoms of sickle cell disease?

It prevents oxygen for getting to your spleen, liver, kidneys, lungs, heart, or other organs, causing a lot of
damage.

How do doctors diagnose sickle cell disease?

with a simple blood test.

How is sickle cell disease treated?

babies and young children must take a daily dose of penicillin to prevent infection
Smith-Lemli-Opitz syndrome
SLOS is a metabolic disorder, People that have SLOS are not able to produce
cholesterol helping their growth and development.

How did you get that?

SLOS is inherited in an autosomal recessive pattern.

What are the symptoms of SLOS?

Mental retardation and poor growth, cleft palate, malformed genitals, polydactyly
(extra fingers or toes), and microcephaly

How do doctors diagnose SLOS?

an ultrasound can tell you physical deformities before a baby is born.