31 Jan . How does a mutation

Prepare an essay addressing the different questions listed below. The essay must be at least 450 words and written in your own words with citations, if appropriate

1. What are the critical functions of the skeletomuscular systems? How are they essential for life?

2. How do the skeleton and skeletal muscle work together to allow movement?

3. Sally is in the emergency room again with another fractured bone. Just 6 months ago, she fractured her left wrist and six months before that her right ankle. Now, she has fractured her right wrist when falling playing tag with her brother. She overhears the doctors asking her mother if there is any physical abuse taking place at home. However, one doctor notes that Sally also has blue sclerae. Genetic testing is subsequently performed and it is determined that Sally has osteogenesis imperfecta type 1.

a. What is osteogenesis imperfecta?

b. What genes are mutated in osteogenesis imperfecta?

c. What role does collagen play in bone?

4. Parents of a 4-year-old Johnny noticed a change in their son’s coordination. Johnny was born a healthy boy and although he began walking late compared to other children, his parents had no reasons for concern. However recently, Johnny has become clumsy, often falling, and he is having a particularly difficult time navigating stairs. His preschool teachers have also notice that Johnny is unable to run around the playground with the other children. After conferring with their pediatrician, Johnny is diagnosed with Duchenne muscular dystrophy (DMD).

. How does a mutation in the dystrophin gene lead to DMD?

a. How does it affect skeletal muscle function?

b. Does DMD affect boys and girls equally? If not, who are primarily affected and why?

5. A young toddler is diagnosed with Spinal Muscular Atrophy (SMA) type II.

. What is SMA? What gene is mutated?

a. What does SMA tell us about the importance of the neuromuscular junction?