GENETICS

CYSTIC FIBROSIS

The name cystic fibrosis refers to the characteristic scarring (fibrosis) and cyst formation within the pancreas, first recognized in the 1930s.

What is CYSTIC FIBROSIS?

inherited disease of your secretory glands, including the glands that make mucus and sweat.means that the disease

is passed through the genes from parents to

children.

mucoviscidosis

CF is caused by a mutation in the gene for the protein cystic fibrosis transmembrane conductance regulator (CFTR). This protein is required to regulate the components of sweat, digestive juices, and mucus.

regulates the movement of

chloride and sodium ions across epithelial membranes, such as the alveolar epithelia located in the lungs.

CF AFFECTS?

the exocrine glands, lungs, pancreas liver intestines sinuses & sex organs.

secrete body fluids

HOW COMMON IS CF?

In Australia, one in 25 people are carriers of the CF gene. Carriers of the CF gene do not have any symptoms of the condition. If two people carry the gene and have a child, each pregnancy will have:

• A one in four chance that the child will have CF

• A two in four chance that the child will not have CF but will y the gene

• A one in four chance that the child will not have CF and will not be a carrier.

• One in every 2,500 births produces a child with CF. Approximately 3,000 people in Australia have CF.

Cystic fibrosis is the most common genetically-inherited life-shortening chronic illness affecting young Australians today.

A person who inherits two faulty genes of ctfr one from each parent will have cf

you have one faulty ctfr gene from your father and one normal gene from your mother so you won’t have cf and will live normally but you will be carriers that means u could pass your one faulty ctfr gene down to your kids as long your wifes’ gene normal its fine.

What Causes Cystic Fibrosis?

Normally, the epithelial cells release a slippery layer of mucous that captures dust and germs, and acts

as a lubricant. A person with cystic fibrosis inherited a gene that causes the epithelial cells to produce a defective protein. That protein leads to the formation of thick, sticky mucus, which causes

many serious problems.

EFFECTS OF CYSTIC FIBROSIS

The sticky mucus can: clog the bronchial, interfere with breathing, causing coughing and wheezing cause fatigue interfere with digestion and absorption of

nutrients,

- which can limit growth and weight gain and cause chronic diarrhea.

CF SYMPTOMS Persistent cough, with great physical

effort Some difficulty breathing Tiredness, lethargy or an impaired

exercise ability Frequent visits to the toilet Salt loss in hot weather which may

produce muscle cramps or weakness Poor appetite.

CF is usually diagnosed at birth• In most Australian States all babies are screened

at birth for CF through the newborn screening test. This involves collection of a blood sample. If the results of the screening test reveal very high levels of a substance called immunoreactive trypsin (IRT), CF is suspected and the the blood is then analyzed for the most common mutation-causing CF.

• Some babies may also be diagnosed shortly after birth as a result of an intestinal blockage called meconium ileus. Most babies who have CF are now diagnosed within the first two months of life.

• sweat test to measure the amount of salt (sodium chloride) in the sweat and confirm the

diagnosis.

Things to remember!

There is no cure for CF but treatment can slow progression of the disease

One in 25 people carry the gene but will have no symptoms

Cystic fibrosis is usually diagnosed at birth Cystic fibrosis is not contagious Cystic fibrosis occurs in males and females Testing before pregnancy can now identify

if you are a CF gene carrier.

Thank you for listening!

SCIENCE MAJOR – 7

Prepared by:

ANA MARIE SEMAŇABSED – III