Cystic Fibrosis and Genetic Inheritance

Hi, My name is Sarah Brewer, and today I'm going

to be talking to you about cystic fibrosis and how

it develops in an organism.

Cystic fibrosis is a hereditary disease, which infects 30,000 people

in the U.

S. And over 70,000 people worldwide.

Symptoms include wheezing, shortness of breath, persistent coughing, and these

can lead to liver disease and diabetes.

Cystic fibrosis, or CF, causes the body to produce thick

mucus. Which closet clogs The lungs obstructs the pancreas.

Over 10 million Americans actually carried the CF gene but

are unaware.

This is an illustration of what a person who has

healthy airways would look like or doesn't have.

CF and that's on the left and then on the

right is a person who has who has the disease

is airways.

And as you can see, there's a noticeable difference in

order to better under understand this disease and how it

develops in an organism we have to compare.

Ah, person who has the disease is sells a person

who doesn't have diseases cells.

The cells that are affected are called epithelial cells, and

they're found in the lungs, digestive tract sweatbands and janitorial

Mary system.

The inherited.

Gene gene directs the bodies epithelial cells to produce a

defective protein and a normal person.

The epithelial cells regulate the way the chloride or salt

passes across cell membranes.

But with the defective protein in cells that occur in

CF, the cells cannot regulate this, and this disrupts the

balance of salt and water that maintains a thin Cody

and weakness in the body and just for reference.

This is what those epithelial cells look like just to

conclude in an organism.

Who doesn't have CF with this epithelial cells job is

to maintain the balance of salt and water in order

to create a thin layer is throughout the body, which

is essential.

But in a person with CF, these cells are not

functional and therefore cannot regulate the amount of salt and

causes the thick, sticky mucus to form, resulting in the

patient cough.

A lot have trouble breathing and other health problems that

we've mentioned before.

Mhm. Now we're going to take a look at the

world DNA and proteins in this whole process.

The structure of the deal of a person's DNA, ultimately

coz to create proteins in an organism spotty a change

in DNA mean changing the protein and therefore a change

in the south.

When DNA mutates, it can create defective proteins, which prevent

cells from doing their job properly, just like what happens

in a person with yet in a person with cystic

fibrosis, they inherit a genetic mutation that causes a change

in your DNA.

This genetic mutation changes their Dina and creates a non

functional protein known a C T F O, which stands

for cystic fibrosis, trans membrane conducted regulator.

This mutation makes it impossible for epithelial cells to do

their job correctly.

The regulation of chloride is then forwarded, resulting in the

symptoms off cystic fibrosis.

In a person without CF, the protein operates normally creating

fully functional epithelial cells, but then regulate the levels of

salt in the body.

Corrects it.

This creates the thin layer because that we were talking

about in a well functioning pancreas and lumps.

But now I'm going to talk about how this disease

is inherited and a little bit more about where that

doing it comes from.

Person's DNA comes from their parents through a process called

neurosis. Neurosis happens when the half Lloyd sells the egg

cell from the females and spur himself from the father

formas I got self.

This happens through fertilization, and it creates a complete set

of 23 home Malaga's chromosome pairs.

Originally each half would sell only contains a single set

of 23 chromosomes the nuclear from the Exhale and Spur

himself pulled together and the criminal chromosomes combined, creating a

unique set of genetic code.

This new south then grows and becomes the offspring and

a new individual.

This is how the child gets DNA from both fathers

side and the mother's side, and how things like diseases

are passed on genetically.

So how does this impact cystic fibrosis?

Well as I mentioned before, CF is a hereditary disease,

meaning that environmental factors don't cause mutation you must inherited

from her parents.

Something special about sister fibrosis is that in order to

develop a C F, a person must inherit two copies

of the C T.

F R gene that contains mutations.

In other words, both both parents must have the genetic

mutation for the disease to develop in the offspring.

If a person on Lee has one copy of mutated

CT FRG thin, they're called a carrier and don't suffer

from the observed of the traits of the disease.

If two carriers have a child, then there is a

25% chance of the child.

Perhaps, yeah, a 50% chance that the child will be

a carrier but will not have CIA on a 25%

chance. The child will not be character, and the disease

can appear to skip a generation because, for example, say

someone who has CF has a child.

But the child other parents didn't carry the C T

F R mutation then they can't have the disease is

observable traits, but they can still carry the defective gene.

Now, if the same person has a kid with someone

who does have the C T.

F R mutations, well, then their child has a high

chance of being born with cystic fibrosis, and it would

appear as if the disease just skipped a generation.

And that is all I have for you today.

I hope you learned something about cystic fibrosis and how

it occurs in an organism.

These air my sources, and I will see you next

month

Cystic Fibrosis and Genetic Inheritance

Audio TranscriptAuto-generated