Copie - Présentation CFTR anglais

Cystic fibrosiS

And the role of CFTR in membrane transport

Introduction to Cystic Fibrosis

• Autosomal recessive disease

• Mutation in CFTR gene
• = Cystic Fibrosis Transmembrane Conductance Regulator
• Thick and sticky mucus

CARRIER PARENTS

• Chronic illness

NON CARRIER CHILD

CARRIER CHILD

CARRIER CHILD

AFFECTED CHILD

The Role of CFTR

CFTR Protein

Normal

Disfunction

• Chloride ion channel
• Control movement of water
• Osmosis
• osmotic gradient balances by H2O

https://i.sstatic.net/0WJib.jpg

• Important in epithelial cells
• Provents any blockages

https://www.google.com/imgres?q=epithelium%20cells%20organs&imgurl=https%3A%2F%2Frsscience.com%2Fwp-content%2Fuploads%2F2022%2F04%2Fepithelial-tissue-and-their-function.jpg&imgrefurl=https%3A%2F%2Frsscience.com%2Fepithelium%2F&docid=KNDOSrcOQPAQZM&tbnid=3rVZJsLdId1lkM&vet=12ahUKEwjhrdn2ofWJAxXLVqQEHXKrPTIQM3oECBoQAA..i&w=1118&h=761&hcb=2&ved=2ahUKEwjhrdn2ofWJAxXLVqQEHXKrPTIQM3oECBoQAA

Role of Chloride Ions

• Maintain fluidity (by controlling water flow)

https://www.google.com/url?sa=i&url=https%3A%2F%2Fdrvirendrasingh.com%2Fwhat-is-idiopathic-pulmonary-fibrosis%2F&psig=AOvVaw1adg9NveCLUGGLaXGqeTel&ust=1732548381523000&source=images&cd=vfe&opi=89978449&ved=0CBQQjRxqFwoTCNDHlOuj9YkDFQAAAAAdAAAAABAE

• Example : Lungs

Dysfonction of CFTR

• CFTR gene mutated
• Most common : F508del (Class II)

https://cffamilyconnection.org/wp-content/uploads/2016/05/CFTR-Mutation-Classes.jpg

In your opinion, how many CFTR gene mutation are known today ?

200

over 2,000

betwenn 300 and 500

Impact on organs

https://www.cysticfibrosis.gr/wp-content/uploads/2024/04/CF-Organs-affected-eng.jpg

• Lungs : blocks the airways

• Pancreas : prevents digestive enzymes from reaching the intestines

• Reproductive system : Vas deferens is blocked

• and others

Symptoms

https://images.everydayhealth.com/images/seo-graphic-content-initiative/eh-how-cystic-fibrosis-affects-the-body-seo-graphic.png

Research and treatment

Diagnosis and screening

Newborn Screening

Genetic Testing

Sweat Test

Current Treatment

Medications

Airway clearance techniques

Pancreatic enzyme supplements

Nutritional support

Advances in Gene Therapy and Targeted Treatments

CFTR Modulators

Reduction of symptoms

Trikafta

elexacaftor-tezacaftor-ivacaftor

CRISPR

= editing tool inexpensive compared to other methods

Which symptom do you think might have the biggest impact on someone’s daily life?

THANKS!

What is the main role of the CFTR protein in the body?

a) To transport chloride ions across cell membranes

b) To produce digestive enzymes

c) To fight respiratory infections

What happens when the CFTR protein is not working properly in cystic fibrosis?

a) The body produces thin and fluid mucus

b) The body produces thick and sticky mucus

c) The body stops producing mucus

Which of the following is a common symptom of cystic fibrosis?

a) Frequent lung infections

b) High blood pressure

c) Unexplained weight gain

What is a common method used to diagnose cystic fibrosis?

a) Blood test for IRT levels

b) Brain scan

c) Physical examination of the heart

What is the most common CFTR mutation in cystic fibrosis?

a) F508del

b) G542X

c) N1303K