Gaucher Disease and Chromosome 1

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Questions and Answers

¿Cuál es la función del enzima glucocerebrosidasa (GBA) en el cuerpo?

  • Descomponer el glucocerebroside, un tipo de glicolipido (correct)
  • Regular el metabolismo del azúcar
  • kontrolar el crecimiento celular
  • Romper las proteínas en la membrana celular

¿Qué caracteriza a los trastornos de almacenamiento lisosomal, como la enfermedad de Gaucher?

  • La liberación de proteínas en el citoplasma
  • La deficiencia de oxígeno en las células
  • La sobrecarga de iones en la membrana celular
  • La acumulación de sustratos en lisosomas, lo que lleva a daño celular y enfermedad (correct)

¿Dónde se encuentra el gen GBA responsable de la enfermedad de Gaucher?

  • Cromosoma 1q21 (correct)
  • Cromosoma 11q22
  • Cromosoma Xq23
  • Cromosoma 22q12

¿Cuál es el patrón de herencia de la enfermedad de Gaucher?

<p>Autosómico recesivo (C)</p> Signup and view all the answers

¿Cuál es el objetivo del tratamiento de reemplazo enzimático en la enfermedad de Gaucher?

<p>Reducir la acumulación de glucocerebroside en las células (B)</p> Signup and view all the answers

¿Qué es el resultado cuando ambos padres son portadores de la enfermedad de Gaucher?

<p>Un 25% de probabilidad de que los hijos estén afectados (B)</p> Signup and view all the answers

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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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