Genes
CFTR
Overview
CFTR, or Cystic Fibrosis Transmembrane Conductance Regulator, is a protein in our bodies that helps control the movement of salt and water in and out of our cells. This protein is crucial for the normal function of our lungs, pancreas, and other organs. If the CFTR protein isn't working properly, it can lead to diseases like cystic fibrosis. This happens when there's a mutation, or change, in the gene that makes the CFTR protein. Understanding and studying the CFTR protein can help scientists develop treatments for these diseases.
Short Overview
Conditions associated with CFTR
CFTR, or Cystic Fibrosis Transmembrane Conductance Regulator, is a protein in our bodies that helps control the movement of salt and water in and out of our cells. This protein is crucial for the normal function of our lungs, pancreas, and other organs. If the CFTR protein isn't working properly, it can lead to diseases like cystic fibrosis. This happens when there's a mutation, or change, in the gene that makes the CFTR protein. Understanding and studying the CFTR protein can help scientists develop treatments for these diseases.
Gene Function
The CFTR gene is essential in maintaining the body's salt and water balance, primarily through controlling the movement of chloride ions in and out of cells, which is vital for the proper functioning of organs like the lungs and digestive system. It also aids in digestion by participating in the production of digestive juices in the pancreas, which contain enzymes that help break down food for effective nutrient absorption. Additionally, CFTR contributes to the body's defense system by assisting in the production of mucus, a substance that traps and removes harmful particles and bacteria, especially in the respiratory system, while its protein activity is regulated by other proteins and biochemical processes within the cell.
Mutation and Pathology
The CFTR gene plays a significant role in the body, influencing various diseases and traits. Most notably, mutations in this gene can lead to cystic fibrosis, a condition that affects the lungs and digestive system. Additionally, the gene can impact male fertility and is associated with a form of pancreatitis.
Diagnostics
CFTR is usually tested in a genetic test when a newborn's routine screening test indicates high levels of a specific digestive chemical in the blood. This is often followed by a sweat test, as children with CFTR typically have higher salt levels in their sweat. If these tests suggest CFTR, a genetic test is conducted to identify specific mutations in the CFTR gene and confirm the diagnosis.
Effect of Variations on the CFTR
Variants are common variations in genes that can significantly impact the health and traits of an individual. This section shows all variants that are located on CFTR, as well as their associated conditions, traits and drugs.
Did you know that gene anomalies are relatively common?
On average, each person has approximately 100 to 400 genes with variations or mutations (with different genes being affected in different individuals). However, in most cases, the matching gene on the other chromosome in the pair is normal, which helps prevent potential negative effects. In the general population, the likelihood of an individual inheriting two copies of the same abnormal gene—and thus developing a genetic disorder—is very low. However, this risk increases significantly for children of parents who are closely related by blood.
Dr. Wallerstorfer
Conditions caused and influenced by CFTR
Genetic abnormalities can affect the chance of developing a condition by raising or lowering the risk. They can change how a gene works, leading to faulty or missing proteins. However, even with a higher genetic risk, a condition may not develop because factors like environment and lifestyle also have an impact.
Variants located on CFTR
The genetic code of a gene is virtually identical between differen people. Only a few individual letters differ from one person to the next.
Did you know genetic variations may affect drugs?
Genetic differences can affect how our body reacts to drugs. Some genes can make a drug work better or worse, and others can change how safe it is or how much of it you need.
Dr. Wallerstorfer
Pharmacogenetics
Genetic differences can affect how our bodies respond to medications. Some people’s genes can make a drug work better or worse, change how safe it is, or influence how much of the drug they need. These genetic changes can affect how the body processes medicine, like how quickly it is broken down or how it interacts with cells. For example, a genetic difference might cause a person’s body to break down a drug too fast, making it less effective, or too slowly, increasing the risk of side effects. This is why people can have different reactions to the same medication.
rs1800100
Drug
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Summary
IVACAFTOR
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No summary available.
more info
IVACAFTOR
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No summary available.
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IVACAFTOR
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No summary available.
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Legend:
Increased
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No known effect
rs1800111
Drug
Genotype
Level of evidence
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Summary
IVACAFTOR
Breakdown
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Individuals with the genotype C/C have increased Drug Effect to IVACAFTOR.
more info
IVACAFTOR
Breakdown
Drug Effect
Side Effects
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No summary available.
more info
IVACAFTOR
Breakdown
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No summary available.
more info
Legend:
Increased
Decreased
No known effect
rs11971167
Drug
Genotype
Level of evidence
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Summary
IVACAFTOR
Breakdown
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No summary available.
more info
IVACAFTOR
Breakdown
Drug Effect
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Individuals with the genotype G/T have increased Drug Effect to IVACAFTOR.
more info
IVACAFTOR
Breakdown
Drug Effect
Side Effects
Dosage
Individuals with the genotype T/T have increased Drug Effect to IVACAFTOR.
more info
Legend:
Increased
Decreased
No known effect
rs1800100
Drug
IVACAFTOR
Genotype
Level of evidence
Impacts
Breakdown
Drug Effect
Side Effects
Dosage
Summary
No summary available.
More info
Drug
IVACAFTOR
Genotype
Level of evidence
Impacts
Breakdown
Drug Effect
Side Effects
Dosage
Summary
No summary available.
More info
Drug
IVACAFTOR
Genotype
Level of evidence
Impacts
Breakdown
Drug Effect
Side Effects
Dosage
Summary
No summary available.
More info
Legend:
Increased
Decreased
No known effect
rs1800111
Drug
IVACAFTOR
Genotype
Level of evidence
Impacts
Breakdown
Drug Effect
Side Effects
Dosage
Summary
Individuals with the genotype C/C have increased Drug Effect to IVACAFTOR.
More info
Drug
IVACAFTOR
Genotype
Level of evidence
Impacts
Breakdown
Drug Effect
Side Effects
Dosage
Summary
No summary available.
More info
Drug
IVACAFTOR
Genotype
Level of evidence
Impacts
Breakdown
Drug Effect
Side Effects
Dosage
Summary
No summary available.
More info
Legend:
Increased
Decreased
No known effect
rs11971167
Drug
IVACAFTOR
Genotype
Level of evidence
Impacts
Breakdown
Drug Effect
Side Effects
Dosage
Summary
No summary available.
More info
Drug
IVACAFTOR
Genotype
Level of evidence
Impacts
Breakdown
Drug Effect
Side Effects
Dosage
Summary
Individuals with the genotype G/T have increased Drug Effect to IVACAFTOR.
More info
Drug
IVACAFTOR
Genotype
Level of evidence
Impacts
Breakdown
Drug Effect
Side Effects
Dosage
Summary
Individuals with the genotype T/T have increased Drug Effect to IVACAFTOR.
More info
Legend:
Increased
Decreased
No known effect
Gene Function & Mechanism
The CFTR gene plays a crucial role in the body's cells, influencing various processes and pathways. It is involved in the regulation of salt and water balance in the body, aids in the digestion process, and has a role in the body's defense system. The gene's functions are carried out through the production of the CFTR protein, which is located in the cell membrane and acts as a channel for chloride ions. The protein's activity is regulated by other proteins and biochemical processes within the cell.
Regulation of Salt and Water Balance: Helps maintain the balance of salt and water in the body by controlling the movement of chloride ions, a type of salt, in and out of cells. This process is crucial for the proper functioning of the body's organs, particularly the lungs and the digestive system.
Aid in Digestion: Plays a role in digestion by being involved in the production of digestive juices in the pancreas. These juices contain enzymes that help break down food, allowing the body to absorb nutrients effectively.
Role in Body's Defense System: Contributes to the body's defense system by helping in the production of mucus, a substance that traps and removes harmful particles and bacteria from the body. This function is particularly important in the respiratory system, where mucus helps keep the airways clear.
Protein Activity Regulation: The activity of the CFTR protein is regulated by other proteins and biochemical processes within the cell. This ensures that the protein functions correctly, allowing chloride ions to move freely across the cell membrane.
Gene expression
The CFTR gene is like a blueprint that our bodies use to make a protein that controls the movement of salt and water in and out of our cells. This process is crucial for the production of thin, freely flowing mucus in various parts of the body. However, if there's a mistake in this blueprint, the protein may not work properly or might not be produced at all. This can lead to thicker, stickier mucus, which can cause problems in the lungs, pancreas, and other organs. The expression of the CFTR gene, therefore, plays a vital role in maintaining the balance of fluids in our body's tissues.
Prompoters and Inhibitors
Promoters and inhibitors play a crucial role in the functioning of CFTR, a protein that helps our bodies maintain a balance of salt and water. Promoters, like genistein and forskolin, boost the activity of CFTR, helping our cells to keep this balance. On the other hand, inhibitors, such as GlyH-101 and CFTR(inh)-172, slow down CFTR's activity. This can lead to problems, especially in people with certain genetic conditions. Understanding these promoters and inhibitors can help scientists develop treatments for these conditions.
Protein Structure
The proteins produced by CFTR are complex structures with five main parts, or domains. Two of these domains, known as the transmembrane domains, act like gatekeepers, controlling the movement of particles in and out of cells. The two nucleotide-binding domains act like tiny engines, using energy to open and close the gate. The fifth domain, called the regulatory domain, acts like a switch, controlling when the gate opens and closes. Together, these domains allow the CFTR proteins to regulate the balance of salt and water in our bodies.
Protein Interactions
The proteins produced by CFTR, a gene in our bodies, work like a team with other proteins. They interact to regulate the balance of salt and water on our body's surfaces, such as the lining of the lungs and pancreas. This interaction is crucial for the normal function of our organs. If something goes wrong with the CFTR proteins, it can lead to diseases like cystic fibrosis. Therefore, understanding how these proteins interact is key to developing treatments for such conditions.
Similar Genes
The ABCC7 gene, like CFTR, belongs to the ATP-binding cassette (ABC) transporter superfamily, which helps move substances across cell membranes. Similarly, the SLC26A9 gene also shares a connection with CFTR, as it aids in chloride transport, a key function of CFTR. Both genes, when mutated, can lead to health issues, much like the CFTR gene. For instance, mutations in ABCC7 can cause a disorder called Dubin-Johnson syndrome, while SLC26A9 mutations can contribute to pancreatitis. Thus, these genes are similar to CFTR in their function, family, and potential health implications when mutated.
Gene interaction
The CFTR gene, which is responsible for cystic fibrosis when mutated, does not work in isolation. It interacts with several other genes in the body, which can influence the severity and symptoms of the disease. These interactions can be complex and vary from person to person. Here are some key gene interactions involving CFTR:
SLC26A9: This gene codes for a chloride channel, similar to CFTR. When CFTR is not functioning properly, it can partially compensate for its loss, reducing the severity of cystic fibrosis symptoms.
SLC9A3: This gene helps regulate the balance of ions in the body. If it is also mutated, it can exacerbate the symptoms of cystic fibrosis.
DNAH11: This gene is involved in the movement of cilia, tiny hair-like structures in the lungs. Mutations in it can worsen lung disease in people with cystic fibrosis.
TGF-beta1: This gene regulates inflammation in the body. Variations in it can influence the severity of lung disease in cystic fibrosis patients.
Did you know that proteins and genes can have the same name?
In most cases, a gene codes for a specific protein, meaning the primary function of a gene is to provide instructions for producing a protein. Due to this intimate relationship, scientists often use the same name for both the gene and the protein it codes for.
Dr. Wallerstorfer
Diagnostics
CFTR is typically diagnosed in newborns through a routine screening test, which checks for high levels of a certain digestive chemical in the blood. If the levels are high, a sweat test is performed to measure the amount of salt in the child's sweat, which is usually higher in those with CFTR. In some cases, a genetic test may also be conducted to confirm the diagnosis. This test identifies specific mutations in the CFTR gene. Early diagnosis allows for prompt treatment, improving the quality of life for those affected.
Living with
Variations in the CFTR gene can lead to a range of health issues, most notably, cystic fibrosis, a condition that affects the lungs and digestive system. These variations can cause the body to produce thick, sticky mucus that can clog the lungs and obstruct the pancreas. Individuals carrying these variations may experience persistent coughing, frequent lung infections, and difficulty in absorbing nutrients from food. Moreover, they may also face fertility issues, particularly in men. The severity of these symptoms can vary widely among individuals, largely depending on the specific CFTR variation they carry.
Did you know genetic tests are affordable?
Genetic tests, once regarded as a luxury due to their high costs, have become significantly more affordable. This change has been made possible through advancements in technology and increased competition in the market. Now, anyone curious about their genetic makeup and potential health risks can access this information at an affordable price. This development provides unprecedented insights into individual genetics.
Dr. Wallerstorfer
When to test CFTR
A test for CFTR, a gene associated with a specific health condition, is typically conducted under two main circumstances. Firstly, it is done when an individual exhibits symptoms suggestive of the condition, such as persistent lung infections or digestive problems. Secondly, it is performed as a part of newborn screening programs or when there is a known family history of the condition.
Did you know the common mutations?
Mutations in the CFTR gene are relatively common, especially among people of Northern European descent. About 1 in 25 people in this population carry a mutation in this gene, most commonly leading to cystic fibrosis. However, having a single mutation does not typically cause any health problems; issues arise when a person inherits two copies of the mutated gene.
Dr. Wallerstorfer
Genes tested together with CFTR
In the realm of genetic testing, certain genes are often examined in conjunction with the CFTR gene. This is due to their shared involvement in similar biological processes or diseases. The following genes are typically tested alongside CFTR to provide a more comprehensive understanding of an individual's genetic makeup and potential health risks.
SLC26A9: This gene codes for a protein involved in chloride transport, a process also regulated by the CFTR gene. Testing it along with CFTR can provide insights into conditions related to abnormal chloride transport, such as certain types of cystic fibrosis.
SCNN1B and SCNN1G: These genes code for sodium channels, which are crucial for maintaining fluid balance in the body. They are often tested with CFTR to understand conditions that disrupt fluid balance, such as pseudohypoaldosteronism type 1 (PHA1).
SERPINA1: This gene produces a protein called alpha-1 antitrypsin, which protects the lungs from damage. Testing it alongside CFTR can help identify individuals at risk for lung diseases, including certain forms of emphysema.
Each of these genes can contribute to an individual's overall risk profile for developing breast and ovarian cancer, and understanding these risks can be crucial in the management of one's health. It is important to consult a healthcare professional to discuss any concerns related to genetic testing and cancer risk.
Did you know that pharmacogenetics is a thing?
Genetic testing can offer insights into how your body metabolizes specific medications, leading to more personalized and effective treatment plans. The genetic tests designed for this purpose are known as pharmacogenetic tests. Pharmacogenetics is the study of how genes influence an individual's response to drugs.
Dr. Wallerstorfer
History
The CFTR gene was first identified in 1989, marking a significant milestone in the field of genetics. This discovery was the result of years of research into the cause of cystic fibrosis, a common genetic disorder. The gene was found to be responsible for the production of a protein that helps control the movement of salt and water in and out of your body's cells. Mutations in the CFTR gene can disrupt this balance, leading to the symptoms of cystic fibrosis. Since its discovery, over 2,000 different mutations of the CFTR gene have been identified. This has led to a better understanding of the disease and has paved the way for the development of targeted treatments. In recent years, therapies that correct the function of the mutated CFTR protein have shown promise, offering hope for improved quality of life for those with cystic fibrosis.