Genetics of Gaucher Disease - Part II

Abstract

Gaucher disease is an autosomal recessive disorder of lipid storage. It was first described in 1882 by a French physician Philippe Gauche. The hereditary nature of this disease was later recognized by Nathan Brill, a pathologist from Mount Sinai Hospital. He and his colleagues were the first ones to diagnose this disease. In Gaucher disease, a genetic mutation produces a dysfunctional enzyme, beta-glucocerebrosidase. Normally, this enzyme is involved in the process of lipid metabolism and breaks down a lipid, called glucocerebroside, into glucose and fat molecules. In the absence of this enzyme, glucocerebroside accumulates in the body, particularly in white blood cells. Based on the presence or absence of the neurological symptoms, three clinical subtypes of Gaucher disease are recognized. These disease subtypes manifest with different symptoms and affect different age groups.

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• Diagnostic tests for Gaucher disease
• Treatment options
• Evolution of gene for Gaucher disease
• Theories of selective advantage of Gaucher disease mutations