Timo is a healthy high school student with good dietary habits. He lives with his family in the suburbs of Lexington, KY. He started working part-time to save some money for an international travel that he is hoping to do after high school graduation. Timo has been experiencing lots of fatigue during his regular sport ever since he started working part-time that involves lots of physical activity. He has been very cautious about his diet; he has never missed multivitamins and five servings of veggies/fruits. Timo met with the family care physician. Following the checkup and lab tests, he was suggested to take an OTC product containing L-methyl folate regularly and was scheduled for followup. Timo felt better after taking the OTC product for two weeks however he wanted to see the provider to better understand his situation. He was suggested to continue taking the L-methyl folate especially when he feels fatigued. Furthermore he was given an option of genetic tests for a particular gene so that his condition could be better-explained with a long-term plan for self-care. Timoâs family could not support the genetic testing however he was strongly interested in knowing about his condition and how genes matter.
Investigate and synthesize pharmacogenomics of this case? Your narrative should contain but not limited to the following information:
1. What is the most relevant gene to be tested for variants in this individual? How many genetic variants for this particular gene are reported? What are the major variants? 2 points
2. What is the prevalence of major variants in different ethnic groups? 2 points
3. Describe the molecular and phenotypic characteristics of the mutations (nucleotide or amino acid switch) in the major variants? 2 points
4. What happens if this individual is given folic acid continuously instead of L-methyl folate? (list and discuss in context not more than two clinical conditions excluding fatigue) 2 points
5. The individual has good dietary habits. Would the folate derived from diet be not sufficient to overcome the condition of the individual? Yes or No, explain. 2 points.
Timo is a healthy high school student with good dietary habits. He lives with his family in the suburbs of Lexington, KY. He started working part-time to save some money for an international travel that he is hoping to do after high school graduation. Timo has been experiencing lots of fatigue during his regular sport ever since he started working part-time that involves lots of physical activity. He has been very cautious about his diet; he has never missed multivitamins and five servings of veggies/fruits. Timo met with the family care physician. Following the checkup and lab tests, he was suggested to take an OTC product containing L-methyl folate regularly and was scheduled for followup. Timo felt better after taking the OTC product for two weeks however he wanted to see the provider to better understand his situation. He was suggested to continue taking the L-methyl folate especially when he feels fatigued. Furthermore he was given an option of genetic tests for a particular gene so that his condition could be better-explained with a long-term plan for self-care. Timoâs family could not support the genetic testing however he was strongly interested in knowing about his condition and how genes matter.
Investigate and synthesize pharmacogenomics of this case? Your narrative should contain but not limited to the following information:
1. What is the most relevant gene to be tested for variants in this individual? How many genetic variants for this particular gene are reported? What are the major variants? 2 points
2. What is the prevalence of major variants in different ethnic groups? 2 points
3. Describe the molecular and phenotypic characteristics of the mutations (nucleotide or amino acid switch) in the major variants? 2 points
4. What happens if this individual is given folic acid continuously instead of L-methyl folate? (list and discuss in context not more than two clinical conditions excluding fatigue) 2 points
5. The individual has good dietary habits. Would the folate derived from diet be not sufficient to overcome the condition of the individual? Yes or No, explain. 2 points.
