FROM GENE TO PROTEIN

Genes have very specific information. Usually this genetic information is used to make a protein. Change (mutation) within a gene alters the information needed to make a protein. That protein will be made incorrectly or not at all.

Because the JNCL gene has been identified scientists know what chemicals should make up the JNCL protein. Many genes make proteins, which we recognized but the JNCL protein has never before been seen. It is not known what this protein is supposed to do inside our cells.

How much protein is needed? Which cells must have this protein to survive? Is this protein important through out our entire lifetime? What other proteins interact with this protein? The JNCL protein is found in every cell of our body but only brain cells seem to die without it. Why?

The JNCL Research Fund is funding scientists to answer these questions. When we know how the JNCL protein is used in normal cells we will be able to learn what happens when the protein is missing.

With proper funding, scientist will learn just how this disease works. That understanding will allow the development of therapies to slow, stop and even change the damage done in JNCL. Your donations will change the course of JNCL.

UNDERSTAND THE FACTS:

All of this gene/protein information can be difficult to understand when your child is first diagnosed. It may be easier if you were to think of a gene as a piece of spaghetti. Lets say to make the correct protein the gene should look like this.

A mutation or change would cause breaks to happen within that piece of spaghetti or entire pieces to be missing. You could think of our children's genes as looking like this.

Although this is just a cartoon you can see there would not be enough information in the JNCL gene of our children to make a correct protein.

Protein or Enzyme in JNCL

When reading about JNCL it may seem our children are lacking an enzyme and not a protein. This is difficult to understand because all enzymes are proteins but not all proteins are enzymes. Enzymes and proteins have different jobs. In some other forms of NCL an important enzyme is missing but not in JNCL. It is the absence of the JNCL protein that causes brain cells in our children to die.

JNCL is classified as a lysosomal storage disease. The lysosome takes large groups of chemicals and breaks them up into smaller more useable and manageable chemicals. Research has shown the JNCL protein is part of the membrane or outer covering of the lysosome.

Inside the cells of children with JNCL are sack like structures called storage bodies. These storage bodies contain substances that are usually broken down in the lysosome.

It has been assumed because there is something wrong in the lysosomes of our children these chemicals are not broken down, the cells become overloaded with storage and eventually the cell dies.

This disease begins with a problem in the lysosome but to date scientist do not know if it is the storage that kills the brain cells in our children.

Through your donations, the JNCL Research Fund has supported scientific work to answer this most critical question.