Silent Mutations Can Cause Protein Misfolding

The human body performs thousands of functions each day. While some of them are more obvious than others, each function is essential to overall body function. Whether we are running a marathon or taking a nap, our bodies are silently continuing their job of keeping us alive and healthy through various mechanisms.

Sometimes, these functions don’t always perform quite as they should. Fortunately, scientists continue to uncover new understandings about why certain malfunctions occur and are working tirelessly to define how they can be stopped.

Mutations: The Basics

Cell mutations occur within different functions of the body. In most cases, the body’s DNA tells cells when they have reached a mature age. At this point, the cells make copies of themselves to replace the aging cell, which eventually dies off. However, in the case of mutations, the cells do not wait to mature and divide. Instead, at a young stage, they begin duplicating themselves out of control. This creates an excess of cells, commonly understood as a tumor.

Understanding Protein Folding

Another constant function that the body performs is protein folding. Through this process, the protein becomes biologically usable to the body. The folding process occurs in four stages.

The first stage is the amino acids lining up in a sequence. In the second stage, the protein begins to fold upwards. This can create two types of structures: alpha helix and the beta pleated sheet (though the shapes of these protein structures are different, they’re held together by hydrogen bonds). Lastly, the protein folds into the structure that relates to its function.

Protein Misfolding

Sometimes, there are mutations in the first stage of protein folding. These mutations can cause protein misfolding. When this occurs, often in a beta pleated sheet formation, the entire folding process malfunctions. These proteins never reach their proper biological function. The result is often cell death and degenerative diseases such as Alzheimer’s and cystic fibrosis.

A New Understanding

Until recently, scientists did not link protein folding to cell mutations. In fact, many mutations were called “silent mutations,” meaning scientists believed that they happened independently to protein folding and did not cause misfolding.

Thanks to new research, we understand that this is not true. Many mutations can in fact lead to protein misfolding. Because protein misfolding contributes to a diminished cell function, experts are drawing a connection between mutations and diminished cell function. This is an exciting development in the fight against many degenerative diseases.

Though much more research is needed to bring about large-scale changes, this is an exciting step for the scientific community. Now that we understand that they are related, scientists and doctors have the opportunity to make strides in unraveling some of the biggest mysteries around human disease.

Sources: (March 2020)

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