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Now that there is conclusive evidence of a link between Parkinson’s disease and a defective GBA gene, let’s take an in-depth look at the disease that is caused by defective GBA – Gaucher disease. We will look at the forms of the disease that affect the brain (mostly in children) and make an effort to explain Gaucher disease in its simplest terms – “A Layman’s Overview”.  We will explain the disease in a logical progression, from the basic genetics (how a child gets the disease) through the potential outlook for a cure.

First The Genetics

Let’s begin by understanding that genes within the body provide certain functions necessary for good health.  In other words, every gene has a job to do. Second, every gene in the body comes as a “pair”, meaning that there are two that provide the same function. Think of a pilot and a co-pilot who fly a plane. Collectively, they have a job to do – fly the plane. Every person’s body is composed of thousands of pilots and co-pilots (i.e. genes) each with their own instructions on where to fly the plane.  Of the thousands of genes that we have, each of us has approximately 10 genes that have a co-pilot that does not know how to fly (defective). This is referred to as carrier status. It does not cause health problems because a person who is a carrier still has the pilot (the healthy side of the pair) who knows how to fly a plane and provides the necessary function for the body. In summation, everyone reading this newsletter is a carrier of some genetic defect because we all have approximately 10 co-pilots on various genes that do not know how to fly.  Again, carriers carry the gene (defective co-pilot) for the disease, but do not have the disease because the pilot is healthy.

An abnormally large percentage of Parkinson’s patients are carriers (GBA gene).

Continue reading GBA – A Layman’s Overview →