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What is the function of dystrophin?
Dystrophin is a protein that helps stabilize and protect muscle fibers during movement. It plays a crucial role in maintaining the structural integrity of muscle cells, particularly in skeletal and cardiac muscles. Mutations in the dystrophin gene can lead to Duchenne muscular dystrophy, a severe muscle-wasting condition.
What protein is missing from the generic mutation in the X-linked dystrophin gene?
The protein missing from the generic mutation in the X-linked dystrophin gene is dystrophin. Dystrophin is a key structural protein that helps maintain the integrity of muscle fibers. Its absence leads to muscular dystrophy, a progressive weakening of muscles.
What is the missing molecule in Duchenne muscular dystrophy?
The missing molecule in Duchenne muscular dystrophy is dystrophin, which is a protein that helps maintain the structure and function of muscle cells. In individuals with Duchenne muscular dystrophy, mutations in the DMD gene lead to a deficiency or absence of dystrophin protein.
What is duchenne's muscular dystrophy disease?
recessive
What chromosome is muscular dystrophy found on?
The gene is on the short (p) arm of the X chromosome. The gene is known as the dystrophin gene, or simply DMD. It is the longest gene known in the human genome, and codes for the protein dystrophin. According to Aminoff, 2005; the point mutation causing Duchenne Muscular Dystrophy is exhibited on the Xp21 gene, belonging to the above stated chromosome.
How does gene therapy aim to cure muscular dystrophy?
introduces good copies of the dystrophin gene into muscle cells. The goal is to allow the existing muscle cells to use the new gene to produce the dystrophin it cannot make with its flawed gene
What proteins is used to reinforce the sarcolemma and to help transmit the tension generated by sarcomeres to the tendons?
Dystrophin
What disorder is characterized by a lack of protein dystrophin?
Duchenne muscular dystrophy is the disorder characterized by a lack of protein dystrophin. This genetic disorder affects muscle function and leads to progressive muscle weakness and degeneration. It primarily affects boys and can result in mobility issues and other complications.
What is xp21 gene?
The XP21 gene is located on the X chromosome and is associated with X-linked recessive disorders such as Duchenne muscular dystrophy. Mutations in the XP21 gene can lead to a deficiency in the protein dystrophin, resulting in muscle weakness and degeneration.
What has the author Christine Nathalice Tennyson written?
Christine Nathalice Tennyson has written: 'Synthesis, splicing, and stability of dystrophin gene products in muscle'
Which fragment of DNA is the longest or biggest?
The longest fragment of DNA in humans is a gene called dystrophin, which is found on the X chromosome and spans about 2.4 million base pairs. Additionally, the mitochondrial genome is also a long fragment of DNA, totaling about 16,500 base pairs.
How does the genetic defect that causes Becker dystrophy work?
In Becker dystrophy, there is a less-active form of dystrophin (a protein) disrupting the gateway regulator, allowing some leakage of intracellular substances, leading to the myopathy.
