Gaucher Disease and Chromosome 1
6 Questions
1 Views

Choose a study mode

Play Quiz
Study Flashcards
Spaced Repetition
Chat to lesson

Podcast

Play an AI-generated podcast conversation about this lesson

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</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</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</p> Signup and view all the answers

    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

    Studying That Suits You

    Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

    Quiz Team

    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.

    More Like This

    Use Quizgecko on...
    Browser
    Open
    Browser
    Browser