Description of Project
For this project we needed to, describe how a protein can cause a disease and what protein synthesis is. Then we had to compare it to a normal disease protein, and give a general background into the disease. We were given the challenge to present in a creative form besides slides, to show your understanding of the disease and the protein synthesis of proteins. For this project we choose our disease to be cystic fibrosis, which is an inherited life-threatening disorder that damages the lungs and digestive system. The protein causing cystic fibrosis is cystic fibrosis transmembrane conductance regulator (CFTR), which is a membrane protein and chloride channel in vertebrates that is encoded by the CFTR gene.
There are thousands of proteins created in cells to allow the cell to function properly. This project was created to help us understand what happens when the protein do not work by investigating a disease caused by protein. Our group needed to include what the disease is, what parts of the body it affects and its symptoms, what protein is affected, who is likely to get it (certain ethnicites, genders, etc.) treatments, if there's a cure, and any other interesting research about the disease now. We also need to know about protein synthesis in detail by being able to explain the difference between normal and diseased proteins, what is happening→ how and why, where it is happening , what are the major players, and what is the code/sequence
There are thousands of proteins created in cells to allow the cell to function properly. This project was created to help us understand what happens when the protein do not work by investigating a disease caused by protein. Our group needed to include what the disease is, what parts of the body it affects and its symptoms, what protein is affected, who is likely to get it (certain ethnicites, genders, etc.) treatments, if there's a cure, and any other interesting research about the disease now. We also need to know about protein synthesis in detail by being able to explain the difference between normal and diseased proteins, what is happening→ how and why, where it is happening , what are the major players, and what is the code/sequence
Gene Mutation
-caused by mutation of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR.)
-you have to inherit mutated copy of the gene from both parents to get it
-of two carriers have a baby, there is a ¼ chance their child with have cf
-CF gene is on the long arm of the 7th chromosome
-most common mutation is ΔF508, is a deletion (Δ signifying deletion) of three nucleotides that results in a loss of the amino acid phenylalanine (F) at the 508th position on the protein
- Normally, the three DNA base pairs A-T-C (paired with T-A-G on the opposite strand) at the gene's 507th position form the template for the mRNA codon A-U-C for isoleucine, while the three DNA base pairs T-T-T (paired with A-A-A) at the adjacent 508th position form the template for the codon U-U-U for phenylalanine. The ΔF508 mutation is a deletion of the C-G pair from position 507 along with the first two T-A pairs from position 508, leaving the DNA sequence A-T-T (paired with T-A-A) at position 507, which is transcribed into the mRNA codon A-U-U. Since A-U-U also codes for isoleucine, position 507's amino acid does not change, and the mutation's net effect is equivalent to a deletion ("Δ") of the sequence resulting in the codon for phenylalanine at position 508.
-you have to inherit mutated copy of the gene from both parents to get it
-of two carriers have a baby, there is a ¼ chance their child with have cf
-CF gene is on the long arm of the 7th chromosome
-most common mutation is ΔF508, is a deletion (Δ signifying deletion) of three nucleotides that results in a loss of the amino acid phenylalanine (F) at the 508th position on the protein
- Normally, the three DNA base pairs A-T-C (paired with T-A-G on the opposite strand) at the gene's 507th position form the template for the mRNA codon A-U-C for isoleucine, while the three DNA base pairs T-T-T (paired with A-A-A) at the adjacent 508th position form the template for the codon U-U-U for phenylalanine. The ΔF508 mutation is a deletion of the C-G pair from position 507 along with the first two T-A pairs from position 508, leaving the DNA sequence A-T-T (paired with T-A-A) at position 507, which is transcribed into the mRNA codon A-U-U. Since A-U-U also codes for isoleucine, position 507's amino acid does not change, and the mutation's net effect is equivalent to a deletion ("Δ") of the sequence resulting in the codon for phenylalanine at position 508.
Disease Symptoms
-salty skin due to overproduction of salt on sweat
-chronic cough, sometimes with blood or phlegm
-constipation
-mucus blocks digestive enzymes from reaching the intestines
-Malnutrition/ weight loss bc of inability of intestines to absorb nutrients
-heartburn
-pulmonary hypertension, shortness of breath, sinusitis, or wheezing
-delayed development/ puberty
-high risks for lung infections like bronchitis or pneumonia (mucus traps germ)
-risk of male infertility
-⅓ risk of adult diabetes
-chronic cough, sometimes with blood or phlegm
-constipation
-mucus blocks digestive enzymes from reaching the intestines
-Malnutrition/ weight loss bc of inability of intestines to absorb nutrients
-heartburn
-pulmonary hypertension, shortness of breath, sinusitis, or wheezing
-delayed development/ puberty
-high risks for lung infections like bronchitis or pneumonia (mucus traps germ)
-risk of male infertility
-⅓ risk of adult diabetes
Cystic Fibrosis Facts
-mucus and digestive liquids are thick and do not function, blocking passageways, not moving
-affects lungs, gastrointestinal system, pancreas, sweat glands, and reproductive system
-degenerative
-affects lungs, gastrointestinal system, pancreas, sweat glands, and reproductive system
-degenerative
Protein Synthesis
Step 1- Transcription occurs when information from the DNA is transferred into an RNA molecule. One side of the DNA helix is used at a template.
Step 2-The RNA molecule leave the nucleus and goes to the cytoplasm along with the other components that help produce the protein (amino acids, ribosomes, transport RNAs, etc.)
Step 3-tRNA molecules copy three nucleotides at a time and produce corresponding amino acids.
Step 2-The RNA molecule leave the nucleus and goes to the cytoplasm along with the other components that help produce the protein (amino acids, ribosomes, transport RNAs, etc.)
Step 3-tRNA molecules copy three nucleotides at a time and produce corresponding amino acids.
Proteins Causing Cystic Fibrosis
Cystic fibrosis transmembrane conductance regulator (CFTR) is a membrane protein and chloride channel in vertebrates that is encoded by the CFTR gene. Mutations of the CFTR gene affecting chloride ion channel function lead to abnormalities of epithelial fluid transporting in the lung, pancreas and other organs, resulting in cystic fibrosis. Complications include thickened mucus in the lungs with frequent respiratory infections, and pancreatic insufficiency giving rise to malnutrition and diabetes. These conditions lead to chronic disability and reduced life expectancy.
A normally folded cftr protein creates a a cftr channel that allows chloride ions to leave the cell. Misfolded cftr proteins caused by the ΔF508 mutation does not allow chloride ions to leave the cell. This created mucus build up that leads to many organ problems. The symptoms of cf patients must be treated by a multitude of respiratory therapies, medications, and special diet.
A normally folded cftr protein creates a a cftr channel that allows chloride ions to leave the cell. Misfolded cftr proteins caused by the ΔF508 mutation does not allow chloride ions to leave the cell. This created mucus build up that leads to many organ problems. The symptoms of cf patients must be treated by a multitude of respiratory therapies, medications, and special diet.
Our Presentation
DATA
Cystic Fibrosis- an inherited life-threatening disorder that damages the lungs and digestive system
Cystic Fibrosis Protein- cystic fibrosis transmembrane conductance regulator (CFTR), which is a membrane protein and chloride channel in vertebrates that is encoded by the CFTR gene
Protein- any of a class of nitrogenous organic compounds that consist of large molecules composed of one or more long chains of amino acids and are an essential part of all living organisms, especially as structural components of body tissues such as muscle, hair, collagen, etc., and as enzymes and antibodies
Disease- a disorder of structure or function in a human, animal, or plant, especially one that produces specific signs or symptoms or that affects a specific location and is not simply a direct result of physical injury
Cell- the smallest structural and functional unit of an organism, typically microscopic and consisting of cytoplasm and a nucleus enclosed in a membrane. Microscopic organisms typically consist of a single cell, which is either eukaryotic or prokaryotic
Protein Synthesis- the process by which individual amino acids are connected to each other in a specific order dictated by the nucleotide sequence in DNA, which also involves the processes of transcription and translation. Protein synthesis is process by which the genetic code puts together proteins in the cell
RNA Molecule- Short for ribonucleic acid. The nucleic acid that is used in key metabolic processes for all steps of protein synthesis in all living cells and carries the genetic information of many viruses. Unlike double-stranded DNA, RNZ consists of a single strand of nucleotides, and it occurs in a variety of lengths and shapes
Gene Mutation- a permanent alteration in the DNA sequence that makes up a gene, such that the sequence differs from what is found in most people. Mutations range in size; they can affect anywhere from a single DNA building block (base pair) to a large segment of a chromosome that includes multiple genes
DNA- deoxyribonucleic acid, a self-replicating material present in nearly all living organisms as the main constituent of chromosomes. It is the carrier of genetic information
Translation- a step in protein biosynthesis wherein the genetic code carried by mRNA is decoded to produce the specific sequence of amino acids in a polypeptide chain
mRNA- molecule carries a portion of the DNA code to other parts of the cell for processing and is created during transcription, where a single strand of DNA is decoded by RNA polymerase, and mRNA is synthesized
Codon- a sequence of three nucleotides that together form a unit of genetic code in a DNA or RNA molecule
Anti-Codon- a sequence of three nucleotides forming a unit of genetic code in a transfer RNA molecule, corresponding to a complementary codon in messenger RNA
Transcription- the process by which the information in a strand of DNA is copied into a new molecule of messenger RNA (mRNA). DNA safely and stably stores genetic material in the nuclei of cells as a reference, or template
Ribosome- a minute particle consisting of RNA and associated proteins, found in large numbers in the cytoplasm of living cells. They bind messenger RNA and transfer RNA to synthesize polypeptides and proteins
Amino Acid- a simple organic compound containing both a carboxyl (—COOH) and an amino (—NH2) group
tRNA- molecules that carry amino acids to the ribosome for polymerization into a polypeptide. During translation the amino acid is inserted into the growing polypeptide chain when the anticodon of the tRNA pairs with a codon on the mRNA being translated
Polypeptide Chain- a single linear chain of many amino acids, held together by amide bonds. A protein consists of one or more polypeptides (more than about 50 amino acids long). An oligopeptide consists of only a few amino acids (between two and twenty)
Folding- the process by which a protein structure assumes its functional shape or conformation. All protein molecules are heterogeneous unbranched chains of amino acids. By coiling and folding into a specific three-dimensional shape they are able to perform their biological function
Cystic Fibrosis Protein- cystic fibrosis transmembrane conductance regulator (CFTR), which is a membrane protein and chloride channel in vertebrates that is encoded by the CFTR gene
Protein- any of a class of nitrogenous organic compounds that consist of large molecules composed of one or more long chains of amino acids and are an essential part of all living organisms, especially as structural components of body tissues such as muscle, hair, collagen, etc., and as enzymes and antibodies
Disease- a disorder of structure or function in a human, animal, or plant, especially one that produces specific signs or symptoms or that affects a specific location and is not simply a direct result of physical injury
Cell- the smallest structural and functional unit of an organism, typically microscopic and consisting of cytoplasm and a nucleus enclosed in a membrane. Microscopic organisms typically consist of a single cell, which is either eukaryotic or prokaryotic
Protein Synthesis- the process by which individual amino acids are connected to each other in a specific order dictated by the nucleotide sequence in DNA, which also involves the processes of transcription and translation. Protein synthesis is process by which the genetic code puts together proteins in the cell
RNA Molecule- Short for ribonucleic acid. The nucleic acid that is used in key metabolic processes for all steps of protein synthesis in all living cells and carries the genetic information of many viruses. Unlike double-stranded DNA, RNZ consists of a single strand of nucleotides, and it occurs in a variety of lengths and shapes
Gene Mutation- a permanent alteration in the DNA sequence that makes up a gene, such that the sequence differs from what is found in most people. Mutations range in size; they can affect anywhere from a single DNA building block (base pair) to a large segment of a chromosome that includes multiple genes
DNA- deoxyribonucleic acid, a self-replicating material present in nearly all living organisms as the main constituent of chromosomes. It is the carrier of genetic information
Translation- a step in protein biosynthesis wherein the genetic code carried by mRNA is decoded to produce the specific sequence of amino acids in a polypeptide chain
mRNA- molecule carries a portion of the DNA code to other parts of the cell for processing and is created during transcription, where a single strand of DNA is decoded by RNA polymerase, and mRNA is synthesized
Codon- a sequence of three nucleotides that together form a unit of genetic code in a DNA or RNA molecule
Anti-Codon- a sequence of three nucleotides forming a unit of genetic code in a transfer RNA molecule, corresponding to a complementary codon in messenger RNA
Transcription- the process by which the information in a strand of DNA is copied into a new molecule of messenger RNA (mRNA). DNA safely and stably stores genetic material in the nuclei of cells as a reference, or template
Ribosome- a minute particle consisting of RNA and associated proteins, found in large numbers in the cytoplasm of living cells. They bind messenger RNA and transfer RNA to synthesize polypeptides and proteins
Amino Acid- a simple organic compound containing both a carboxyl (—COOH) and an amino (—NH2) group
tRNA- molecules that carry amino acids to the ribosome for polymerization into a polypeptide. During translation the amino acid is inserted into the growing polypeptide chain when the anticodon of the tRNA pairs with a codon on the mRNA being translated
Polypeptide Chain- a single linear chain of many amino acids, held together by amide bonds. A protein consists of one or more polypeptides (more than about 50 amino acids long). An oligopeptide consists of only a few amino acids (between two and twenty)
Folding- the process by which a protein structure assumes its functional shape or conformation. All protein molecules are heterogeneous unbranched chains of amino acids. By coiling and folding into a specific three-dimensional shape they are able to perform their biological function
Reflection
I think for this lab my group and I collaborated very well and that we all contributed to doing research, Jill specifically worked well on the video. We all shared our ideas and collaborated well together when contributing all our ideas to make the video. I feel for this project we could have had a stronger work ethic. We could have also helped Jill on the video more if we would have known she was going to do it after school. A major take away from this project was learning the different steps it take for protein synthesis. If we did this project again i would want more time to do our research because we weren't given enough time to complete it. Overall, this project has taught me a lot about proteins and how they are created.