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Read the three pages of this section to learn about the genetics behind lysosomal storage disorders, or read the Summary Page for a recap of the key points.

Defining genetics and genetic diseases

Genetics is the branch of biology that studies the passing on of traits and features from parents to children. These traits are called “genetic” because they’re determined by tiny structures within human cells called genes. People’s genetic makeup is inherited from their parents and encoded into all their cells. It controls many different things, from gender, height, and eye color to blood type and development of certain diseases.

While many common diseases (such as heart disease, high blood pressure, types of cancer) are thought to have some genetic, or inherited, connection, genetic diseases are those directly caused by specific, identifiable elements of a person’s genetic makeup. Gaucher disease falls into a category of genetic diseases called lysosomal storage disorders (LSDs). To understand the cellular activities that cause these diseases, as well as how they are passed from parent to child, you need to understand some fundamentals of genetics.

Cells and the role of enzymes

A cell is the smallest structural unit of the body. Each cell acts like its own tiny, self-contained organism, performing such functions as reproduction, consumption, and waste disposal. These activities are carried out by smaller components within the cell called organelles. The nucleus (plural: nuclei) is the organelle that functions as the cell’s “command center,” and it contains all a person’s genetic material. The organelles most relevant to diseases such as Gaucher are lysosomes, which are responsible for breaking down waste materials in cells.

Cells are composed of many different types of molecules, of which the most important are proteins. The human body contains tens of thousands of proteins, which make up more of a cell’s mass than anything else except water. Some proteins are highly specialized to control specific activities. Enzymes are a category of proteins responsible for speeding up chemical reactions, helping regulate the body’s growth and development—for example, converting food into energy or breaking down waste substances in cell lysosomes.

We need enzymes to live and function properly--without them, certain bodily operations can go wrong, causing illness or even death. But just how does the body know how to produce the necessary enzymes in the right amounts? That’s encoded in our genetic material in the cell nucleus.

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