Cellular/molecular mechanism

Elaborate on a cellular/molecular mechanism that is disrupted in this disorder and the
experimentation that researchers in the field are currently exploring. What is the gene and
protein affected? Based on your knowledge in genetics what kind of mutation causes the
disease (translocation, deletion, insertion, aneuploidy, missense, point mutation)? How is
it inherited (autosomal or sex chromosome; recessive or dominant?) Does it affect certain
populations more than others? Is there a range in penetrance and severity of symptoms?
What are the current treatments available? What is being explored for future
therapeutics? Use data that are supported by your primary references when appropriate.
Discussion: What are some of the social, ethical, and political concerns associated with
the disease? This may involve health care issues, therapeutics or genetic testing that is
available.