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Questions and Answers
¿Cuál es la función del enzima glucocerebrosidasa (GBA) en el cuerpo?
¿Qué caracteriza a los trastornos de almacenamiento lisosomal, como la enfermedad de Gaucher?
¿Dónde se encuentra el gen GBA responsable de la enfermedad de Gaucher?
¿Cuál es el patrón de herencia de la enfermedad de Gaucher?
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¿Cuál es el objetivo del tratamiento de reemplazo enzimático en la enfermedad de Gaucher?
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¿Qué es el resultado cuando ambos padres son portadores de la enfermedad de Gaucher?
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Study Notes
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
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Description
Discover the genetic disorder caused by glucocerebrosidase deficiency, its inheritance patterns, and treatment options. Learn about the role of chromosome 1 and lysosomal storage disorders.
