Angelinas

presentation

What is Cystic Fibrosis?

An

inherited disease characterized by the

buildup of thick, sticky mucus that can
damage many organs.
Symptoms:
Damage

to respiratory system
Chronic digestion system problems
Mucus,

a slippery substance that lubricates

and protects the linings of the airways,
digestive system, reproductive system, and
other organs and tissues.

What is Cystic Fibrosis? (cont.)

CF

makes the body produce mucus

that is abnormally thick and sticky.
Clogs

the airways, leading to sever problems

with breathing and bacterial infections.
Causes chronic coughing, wheezing, and
inflammation.
Mucus buildup causes permanent lung
damage.

What is Cystic Fibrosis? (cont.)

Digestive

Problems

Babies have meconium ileus, a blockage of the

intestine that occurs shortly after birth.
Buildup of thick, sticky mucus is the pancreas.
Blocks

ducts of the pancreas

Reduces production of insulin
Prevents digestive enzymes from reaching intestines
to aid in digestion.

Shortage of insulin can cause a form of diabetes

known as cystic fibrosis-related diabetes mellitus.

Involved Gene
The

gene involved was identified in 1989.

Located on human chromosome 7, it
codes for a protein called the cystic
fibrosis transmembrane conductance
regulator (CFTR).

Genes related to CF
Mutations

in the CFTR gene cause cystic fibrosis

This gene provides instructions for making a
channel that transports negatively charged
particles called chloride ions into and out of cells.
The flow of chloride ions help control the
movement of water in tissues, which is necessary
for the production of thin, freely flowing mucus.
Mutations in the CFTR gene disrupt the function of
the chloride channels, preventing them from
regulating the flow of chloride ions and water
across cell membranes.

How is it inherited?
In

an autosomal recessive pattern,

which means that both copies of the
gene in each cell have mutations.
The parents of the individual with the
autosomal recessive condition each
carry one copy of the mutated gene,
but they typically do not show signs and
symptoms of the condition.

Bacterium that infects the

lungs

The most common bacterium to infect the CF lung

is Pseudomonas aeruginosa, a gram-negative
microorganism with a propensity to live in warm, wet
environments.
The lungs of most children with CF become colonized
(inhabited long-term) by P. aeruginosa before their 10th
birthday.
The body's response to P. aeruginosa includes
inflammation, which causes repeated exacerbations or
episodes of intense breathing problems.
Although antibiotics can decrease the frequency and
duration of these attacks, the bacterium establishes a
permanent residence and can never be completely
eliminated from the lungs.

Treatments for the Bacterium

The treatments for P. aeruginosa lung disease

typically involve antibiotics, bronchodilators, antiinflammatory drugs, and chest physiotherapy to
help fight infection and clear the lung passages.
While a variety of antibiotics have been used to
treat this bacterium in people with CF,
improvements in drug delivery systems (such as
inhalation) and more effective antibiotics could
potentially improve lung function further.
It is the goal of the Pseudomonas Genome Project
to further aid this effort by providing a detailed
understanding of the genetic capacity of this
organism.