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Recap of the genetics behind lysosomal storage disorders

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).

The organelles (smaller components within a cell) most relevant to diseases such as Gaucher are lysosomes, which are responsible for breaking down waste materials in cells.

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.

People’s genetic information is contained within structures in the cell nuclei called chromosomes, which are constructed primarily of DNA molecules.

Every chromosome is divided up into thousands of genes.

Some genes control important activities, such as the production of vital enzymes needed for healthy functioning.

These genes are involved in lysosomal storage disorders (LSDs): people with these diseases have mutated forms of the genes responsible for producing enzymes that break down certain fatty waste products.

If a gene mutation occurs in a sperm or egg cell, the mutated gene will get passed onto offspring during sexual reproduction. Since the offspring’s very first cell carries the mutated gene, every subsequent cell replicated from it will also have the mutation.

If a person inherits the Gaucher gene (a mutation) from BOTH parents, they will develop Gaucher disease.

To learn more about the inheritance of Gaucher disease, visit the Genetics & Gaucher page.

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