Blood flow Quote by Siddhartha Mukherjee
““Indeed, as predicted, when the gene encoding the hemoglobin B chain was later identified and sequenced in sickle-cell patients, there was a single change: one triplet in DNA-GAG-had changed to another-GTG. This resulted in the substitution of one amino acid for another: glutamate was switched to valine. That switch altered the folding of the hemoglobin chain: rather than twisting into its neatly articulated, clasplike structure, the mutant hemoglobin protein accumulated in stringlike clumps within red cells. These clumps grew so large, particularly in the absence of oxygen, that they tugged the membrane of the red cell util the normal disk was warped into a crescent-shaped dysmorphic "sickle cell." Unable to glide smoothly through capillaries and veins, sickled red cells jammed into microscopic clots throughout the body, interrupting blood flow and precipitating the excruciating pain of a sickling crisis. It was a Rube Goldberg disease. A change in the sequence of a gene caused the change in the sequence of a protein; that warped its shape; that shrank a cell; that clogged a vein; that jammed the flow; that racked the body (that genes built). Gene, protein, function, and fate were strung in a chain: one chemical alteration in one base pair in DNA was sufficient to "encode" a radical change in human fate.””
About This Quote
Source Book: The Emperor of All Maladies by Siddhartha Mukherjee, 2010
A single DNA mutation changes one amino acid, reshaping a protein, deforming cells, blocking blood flow, and causing disease.
In simple terms: A tiny genetic change can reshape a protein and cause illness.
Small molecular changes can have massive health impacts.
Themes
Mood
Type
When to use this quote
- clinical genetics
- pharmaceutical research
- public health education
- patient counseling
Key Concepts
Questions to Reflect On
- How does a single mutation lead to systemic disease?
- What interventions can target downstream effects?
The description simplifies complex biochemical pathways and may overlook environmental modifiers.