Copie - Présentation CFTR anglais

And the role of CFTR in membrane transport

Cystic fibrosiS

• Chronic illness

• Autosomal recessive disease

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

AFFECTED CHILD

CARRIER CHILD

CARRIER CHILD

NON CARRIER CHILD

CARRIER PARENTS

Introduction to Cystic Fibrosis

The Role of CFTR

Disfunction

Normal

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

CFTR Protein

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

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

• Important in epithelial cells
• Provents any blockages

• Example : Lungs

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

Role of Chloride Ions

• Maintain fluidity (by controlling water flow)

Dysfonction of CFTR

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

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

betwenn 300 and 500

over 2,000

200

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

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

Impact on organs

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

Symptoms

Research and treatment

Genetic Testing

Sweat Test

Newborn Screening

Diagnosis and screening

Airway clearance techniques

Nutritional support

Medications

Pancreatic enzyme supplements

Current Treatment

Advances in Gene Therapy and Targeted Treatments

Reduction of symptoms

CFTR Modulators

elexacaftor-tezacaftor-ivacaftor

Trikafta

= editing tool inexpensive compared to other methods

CRISPR

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

THANKS!

c) To fight respiratory infections

b) To produce digestive enzymes

a) To transport chloride ions across cell membranes

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

c) The body stops producing mucus

a) The body produces thin and fluid mucus

b) The body produces thick and sticky mucus

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

c) Unexplained weight gain

b) High blood pressure

a) Frequent lung infections

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

c) Physical examination of the heart

b) Brain scan

a) Blood test for IRT levels

What is a common method used to diagnose cystic fibrosis?

c) N1303K

b) G542X

a) F508del

What is the most common CFTR mutation in cystic fibrosis?