Gaucher Disease and Chromosome 1

Gaucher Disease and Chromosome 1

Glucocerebrosidase Deficiency

• Gaucher disease is a rare genetic disorder caused by a deficiency of glucocerebrosidase (GBA) enzyme
• GBA breaks down glucocerebroside, a type of lipid, into glucose and ceramide
• Deficiency leads to accumulation of glucocerebroside in cells, causing damage to organs and tissues

Chromosomal Mutations

• Gaucher disease is caused by mutations in the GBA gene located on chromosome 1q21
• Over 300 mutations have been identified, with some being more common than others
• Mutations can affect the production or function of the GBA enzyme, leading to deficiency

Genetic Inheritance Patterns

• Gaucher disease is an autosomal recessive disorder, meaning:
  • A person must inherit two copies of the mutated gene (one from each parent) to develop the disease
  • Carriers of the mutated gene have a 50% chance of passing it to each offspring
  • If both parents are carriers, each child has a 25% chance of developing the disease

Enzyme Replacement Therapy

• Enzyme replacement therapy (ERT) is a treatment for Gaucher disease
• ERT involves intravenous infusion of recombinant GBA enzyme to replace the deficient enzyme
• ERT helps to reduce symptoms, slow disease progression, and improve quality of life

Lysosomal Storage Disorders

• Gaucher disease is a type of lysosomal storage disorder (LSD)
• LSDs are caused by defects in lysosomal enzymes, leading to accumulation of substrates in cells
• Other examples of LSDs include Fabry disease, Pompe disease, and Tay-Sachs disease
• Gaucher disease is the most common LSD, affecting approximately 1 in 50,000 to 1 in 100,000 people worldwide