What are genetic mutations?

By Casey Frye, CCNN Writer

Michael J Fox
This picture of the actor Michael J. Fox was taken in 1988, just 3 years before he was diagnosed with Parkinson’s disease in 1991. In 1999 he revealed his condition to the public and is now one of the most well-known advocates for Parkinson’s research.

Have you ever heard the phrase “it runs in the family” or “that family has a strong set of genes?” I have, and I used to think they were talking about a pair of pants! Apparently, they are referring to something inside our cells. What the heck are genes?

To understand what they are, you need to become familiar with deoxyribonucleic acid (DNA) first. DNA is a long stringy molecule found inside every single one of our cells and is the reason you look, or even act the way you do. You see, DNA is the set of instructions that orchestrates how we grow. A gene is simply a small section on the string of DNA. Every time a cell divides, the DNA molecule has to make a copy of itself for the new cells to replace ones that have died. For the most part, the copy is exactly as it should be. Other times, the progress goes wrong and the DNA is all mixed up! This change in DNA is called a mutation, which can mess up the order of genes and cause devastating problems like cancer.

According to researchers from the University of Cambridge, genetic mutations are linked to Parkinson’s disease, which is a brain disorder that causes extreme shaking and difficulty with walking and moving. There are “mitochondria” inside every one of our cells that are basically their “powerhouse.” If there is mitochondria inside our cells that isn’t working correctly, their influence can be very harmful, so the body get’s rid of it. The researchers found that the bodies of people with Parkinson’s disease weren’t able to get rid of damaged mitochondria.

“This research focuses the attention of the [Parkinson’s disease] community on the importance of the proper maintenance of mitochondria,” said Dr. Heike Laman from the University of Cambridge. “We are really only at the very beginning of this work, but perhaps we can use this information to enable earlier diagnosis for Parkinson’s disease patients or design therapies aimed at supporting mitochondrial health.”

The scientists say this discovery will make it easier to develop medicine that can effectively treat individuals with Parkinson’s disease.