Discovery of the first molecular basis for a disease

It is obvious now that defects in proteins, normally because of mutations in the DNA, cause many diseases, but it was not so evident in 1949.

Linus Pauling and his collaborators knew that only deoxygenated blood contains the sickle shaped erythrocytes (see picture) characteristic of sickle cell anemia, which lead them to the hypothesis that hemoglobin was involved in this problem.

They showed that hemoglobin from patients suffering from sickle cell anemia is different (has different electrophoretic mobility) to the “healthy hemoglobin”. In addition, they found that people with sicklemia, a less severe version of the disease, contain both forms of the protein. This was proof of a change in a protein causing a disease!
More important that the actual experiment, are the conclusions derived of it. Not only this was the beginning of “molecular medicine”, but the genetic discussion in the paper is groundbreaking.
Image credit
More about it

No comments:

Post a Comment

Note: Only a member of this blog may post a comment.