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Stalking a Lethal Gene
In Search of Large Families
Reading the Human Blueprint
Why So Many Errors in Our DNA?
How Genetic Disorders Are Inherited
How to Conquer a Genetic Disease
What Gene Is at Fault?
What Protein Does It Make?
Can the Protein or Gene Be Replaced?
Of Mice and Men
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How to Conquer a Genetic Disease:
What Protein Does it Make?
   
 
 

The elongated shape of collagen protein, shown in this molecular model, allows collagen to provide structural support to cells and organs.

 

Antibodies, such as this human immunoglobulin, recognize and attack viruses, bacteria and other foreign substances.

image

Knowing the gene's sequence, scientists use the genetic code to determine which amino acids make up the protein. Then they study the protein and try to find out what it is supposed to do. The tens of thousands of proteins in the body have different shapes and do different jobs, depending on instructions encoded in the genes.



Hemoglobin is the protein in red blood cells that delivers oxygen to all parts of the body via the bloodstream.

 

Does the sick child's faulty gene produce too little protein, a flawed protein, or no protein at all? Scientists need to understand just how the protein defect causes the disease.

 

RESULT: As the mechanism of the disease becomes clear, scientists can devise new approaches to treatment involving either the protein or the gene. Understanding a relatively rare inherited disorder may also bring to important insights into more common and complex diseases.

 

— Maya Pines

Images: (clockwise from top) Laboratory of Richard J. Feldmann, NIH; Laboratory of Richard J. Feldmann, NIH; © 1990 by Leonard Lession, FBPA, in collaboration with Hans Dijkman, Ph.D., and Waldo Feng, Mt. Sinai Medical Center, Department of Physiology and Biophysics, Molecular Modeling Facility - Peter Arnold, Inc.
Illustration: Stansbury Ronsaville Wood, Inc.


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