I’m working on a health & medical question and need an explanation and answer to help me learn.
Cystic fibrosis is genetic disease caused by mutations in the CFTR gene. The consequence of this is production of an abnormal transmembrane protein that is responsible for producing sweat, mucus, and digestive fluids.
Thus, cystic fibrosis is one example of a genetic mutation and the impact that has on the process of protein synthesis and protein function.
For the prompt this week, explain in depth the correlation between a defective gene and the abnormal protein that is produced. Specifically:
1.Detail the process involved in protein production, starting with the DNA sequence to the final protein product. Include descriptions of steps such as transcription, translation, etc.
2.Why does a mutation in the DNA sequence lead to the production of an abnormal protein?
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Cystic Fibrosis Discussion
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Introduction:
Cystic fibrosis is a genetic disease caused by mutations in the CFTR gene. These mutations lead to the production of an abnormal transmembrane protein responsible for various bodily functions. Understanding the correlation between defective genes and abnormal protein production is crucial in comprehending the underlying mechanisms of genetic diseases. This response will address the process involved in protein production, from the DNA sequence to the final protein product, and explain why a mutation in the DNA sequence leads to the production of an abnormal protein.
1. Detail the process involved in protein production, starting with the DNA sequence to the final protein product. Include descriptions of steps such as transcription, translation, etc.
Protein production is a complex process that involves several steps, including transcription and translation. It begins with the DNA sequence and proceeds as follows:
a) Transcription: The first step is the transcription of the DNA sequence into RNA. This process occurs in the nucleus of the cell. Specialized enzymes called RNA polymerases bind to the DNA at the beginning of a gene and initiate the transcription process. The DNA double helix unwinds, and one strand acts as a template for RNA synthesis. RNA polymerases catalyze the formation of a complementary RNA molecule, resulting in messenger RNA (mRNA).
b) mRNA Processing: The newly synthesized mRNA molecule undergoes several modifications before leaving the nucleus. These include the addition of a protective cap at one end and a poly-A tail at the other. Additionally, certain segments called introns are removed, and the remaining segments called exons are spliced together. These modifications ensure the stability and functionality of the mRNA molecule.
c) mRNA Export: Once processed, the mature mRNA molecule exits the nucleus and enters the cytoplasm, where protein synthesis takes place. This export process is facilitated by various transport proteins.
d) Translation: The final step is translation, which occurs on ribosomes in the cytoplasm. Ribosomes read the information encoded in the mRNA, using it as a template to synthesize a protein. Translation involves three key steps: initiation, elongation, and termination.
– Initiation: The ribosome recognizes and binds to the mRNA molecule at a specific start codon. Then, transfer RNA (tRNA) molecules, carrying amino acids, bind to the ribosome and bring the corresponding amino acids in the correct sequence according to the mRNA codons.
– Elongation: The ribosome moves along the mRNA, reading the codons and incorporating the corresponding amino acids into the growing polypeptide chain. This process continues until a stop codon is reached.
– Termination: When a stop codon is encountered, a release factor binds to the ribosome, causing the newly synthesized protein to be released. The ribosome dissociates, and the mRNA molecule can be reused or degraded.
2. Why does a mutation in the DNA sequence lead to the production of an abnormal protein?
A mutation in the DNA sequence can lead to the production of an abnormal protein due to the specific role DNA plays in determining the sequence of amino acids in a protein. DNA consists of four nucleotide bases: adenine (A), thymine (T), cytosine (C), and guanine (G). The sequence of these bases determines the genetic code.
When a mutation occurs, there is a change in the DNA sequence, which may result in an alteration of the mRNA produced during transcription. This, in turn, can lead to changes in the protein’s amino acid sequence during translation.
There are different types of mutations, including point mutations (e.g., substitutions, insertions, or deletions) and chromosomal rearrangements. Point mutations change a single nucleotide base, which can disrupt the reading frame of the mRNA or introduce an incorrect codon. This alteration can cause the incorporation of an incorrect amino acid into the growing polypeptide chain.
Moreover, mutations can also affect regulatory regions of the DNA, which control gene expression. Changes in these regions can disrupt the proper initiation and regulation of transcription, leading to abnormal protein production.
Overall, a mutation in the DNA sequence can impact the protein product by altering the mRNA sequence or interrupting gene regulation, ultimately resulting in the production of an abnormal protein. This abnormal protein may have impaired functionality or structural abnormalities, leading to various pathological conditions, such as those observed in cystic fibrosis.
