Question

The erythropoietin (Epo) receptor of a famous long-distance runner is sequenced and it is found to have a mutation at a Ser residue known to be phosphorylated upon stimulation with Epo. The Ser residue is converted to Ala in the mutant allele. How might this mutation be linked to this person’s athletic endurance?

Answer 1

Erythropoietin cause increase in division of blood cells and leads to increase in blood cells,macrophages and dendritic cells caunt. This help athelete to increase thier efficiency.

In erthropoetin get activated if serine present in this protein get phosphorylated to start complete signaling cascade pathway of immunological cell division. So serine plays an important role in activation of pathway.

In mutation where serine is replaced by alanine cause non-phosphorylated form of erthropoetin and hence signaling pathway is unable to get activated. So cell division cannot occur and this will affect the efficiency of an athelete.

Thanks..!