Gaucher Disease Type 1: Lysosomal Storage Disease
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Questions and Answers

What is the function of fibrillin in the extracellular matrix?

  • It helps in the formation of cartilage
  • It forms a sheath around collagen
  • It provides rigidity to the connective tissues
  • It forms a sheath around elastin (correct)

    • Which of the following is a common feature of Marfan syndrome?

  • Short stature
  • Muscular build
  • Obesity
  • Tall and slender build (correct)

    • What is the main concern if the aorta is affected in Marfan syndrome?

  • High blood pressure
  • Life-threatening condition (correct)
  • Aortic regurgitation
  • Aortic rupture

    • What is the result of valve deformities in Marfan syndrome?

    <p>Aortic regurgitation or mitral valve prolapse</p> Signup and view all the answers

    What is the name of the gene that causes Pseudoachondroplasia?

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

    What is the function of the COMP protein?

    <p>It is essential for the normal development of cartilage</p> Signup and view all the answers

    Where is the COMP protein normally found?

    <p>In the spaces between cartilage-forming cells</p> Signup and view all the answers

    What is the result of cartilage not converting to bone?

    <p>Cartilage is present in the nose and external ears</p> Signup and view all the answers

    What is a characteristic of Classic DM1?

    <p>Muscle weakness and wasting, myotonia, cataract, and cardiac conduction abnormalities</p> Signup and view all the answers

    What is a common symptom of myotonic dystrophy type 2?

    <p>Prolonged muscle contractions and inability to relax certain muscles</p> Signup and view all the answers

    What is the name of the protein associated with the CNBP gene?

    <p>CCHC-type zinc finger nucleic acid binding protein</p> Signup and view all the answers

    What is the phenomenon where the signs and symptoms of a genetic condition become more severe and appear at an earlier age as the disorder is passed from one generation to the next?

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

    Which of the following genetic disorders results from mutations in the fibrillin-1 (FBN1) gene on chromosome 15?

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

    What is a less common symptom of myotonic dystrophy type 2?

    <p>Clouding of the lens in the eyes</p> Signup and view all the answers

    What is the main difference between myotonic dystrophy type 1 and type 2?

    <p>Type 1 is more severe and shortens lifespan, while type 2 is milder</p> Signup and view all the answers

    What is the number of different mutations described in the fibrillin-1 (FBN1) gene?

    <p>Over 1500</p> Signup and view all the answers

    What is the cytogenetic location of the Gaucher disease type 1 gene?

    <p>1q22</p> Signup and view all the answers

    What is the most common type of Gaucher disease?

    <p>Type 1</p> Signup and view all the answers

    What is the mode of inheritance of Gaucher disease type 1?

    <p>Autosomal-recessive</p> Signup and view all the answers

    What is the result of the deficiency of acid β-glucosidase in Gaucher disease type 1?

    <p>Accumulation of glucocerebroside within lysosomes</p> Signup and view all the answers

    What is a common complication of Gaucher disease type 1?

    <p>B-cell lymphoma</p> Signup and view all the answers

    What is the function of beta-glucocerebrosidase?

    <p>To break down glucocerebroside into glucose and ceramide</p> Signup and view all the answers

    What percentage of de novo mutations in NF1 are paternal in origin?

    <p>80%</p> Signup and view all the answers

    What is the primary function of neurofibromin?

    <p>To act as a tumor suppressor</p> Signup and view all the answers

    Who is credited with first describing the symptomatic red spot on the retina of the eye in 1881?

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

    What is the estimated number of mutations identified in the NF1 gene?

    <p>More than 500</p> Signup and view all the answers

    What is the characteristic feature of NF1 clinical manifestations?

    <p>Extreme clinical variability</p> Signup and view all the answers

    Which ethnic group has a similar carrier frequency of Tay-Sachs disease as Ashkenazi Jews, but with a different mutation?

    <p>French Canadians of Quebec ancestry</p> Signup and view all the answers

    What is the protein produced by the NF2 gene?

    <p>Merlin (Schwannomin)</p> Signup and view all the answers

    What is the current medical treatment for Tay-Sachs disease?

    <p>Supportive care to ease symptoms or extend life</p> Signup and view all the answers

    What is the product of the three-gene system that encodes the α and β subunits of the enzyme?

    <p>Catalytically active Hex A</p> Signup and view all the answers

    What is the typical location of tumors in NF2?

    <p>Both ears (acoustic neuromas)</p> Signup and view all the answers

    What is the characteristic skin feature of NF1?

    <p>More than six cafe au lait spots</p> Signup and view all the answers

    What is the mutation that leads to Tay-Sachs disease in Ashkenazi Jews?

    <p>Four-base insertion (TATC) in the Hex A gene</p> Signup and view all the answers

    What is the consequence of a mutation in the HEXB gene?

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

    What is the estimated prevalence of NF2 compared to NF1?

    <p>NF2 is less common than NF1</p> Signup and view all the answers

    What is the result of the four-base insertion (TATC) in the Hex A gene?

    <p>No detectable hex A protein is made</p> Signup and view all the answers

    What is the approximate incidence of Tay-Sachs disease in Ashkenazi Jews?

    <p>1 in 3600</p> Signup and view all the answers

    Study Notes

    Myotonic Dystrophy

    • Characterized by muscle weakness and wasting, myotonia, cataract, and often cardiac conduction abnormalities in classic DM1
    • Adults with DM1 may become physically disabled and have a shortened life span
    • Congenital DM1 is characterized by hypotonia and severe generalized muscle weakness
    • Myotonic dystrophy type 2 is characterized by progressive muscle wasting and weakness, with symptoms typically beginning in a person's twenties
    • Symptoms of myotonic dystrophy type 2 include prolonged muscle contractions, slurred speech, temporary locking of the jaw, muscle pain and weakness, and cardiac conduction defects

    Anticipation

    • The phenomenon of anticipation occurs when the signs and symptoms of a genetic condition become more severe and appear at an earlier age as the disorder is passed from one generation to the next
    • Anticipation is most often seen with certain genetic disorders of the nervous system, such as Huntington disease, myotonic dystrophy, and fragile X syndrome

    Marfan Syndrome

    • Autosomal dominant disorder caused by mutations in the fibrillin-1 (FBN1) gene on chromosome 15
    • Characterized by tall and slender build, disproportionately long arms, legs, and fingers, and a breastbone that protrudes outward or dips inward
    • Symptoms include heart murmurs, high, arched palate, and crowded teeth
    • Complications include widening and tearing of the aorta, valve deformities, and mitral valve prolapse

    Pseudoachondroplasia

    • Autosomal dominant disorder caused by mutations in the COMP gene
    • Characterized by short-limbed dwarfism, with cartilage and bone abnormalities
    • De novo mutations are paternal in origin, with no evidence of anticipation

    Neurofibromatosis

    • NF1 is a multisystem disorder with neurological, musculoskeletal, ophthalmological, and skin abnormalities, and a predisposition to neoplasia
    • Caused by mutations in the NF1 gene, which regulates cell growth and differentiation
    • Symptoms include cafe au lait spots, skin and bone abnormalities, and an increased risk of tumors

    Tay-Sachs Disease

    • Autosomal recessive disorder caused by mutations in the HEXA gene, leading to a deficiency of the enzyme hex A
    • Characterized by the accumulation of glucocerebroside in nerve cells, leading to progressive nerve damage and death
    • Symptoms include muscle weakness, seizures, and loss of motor skills
    • No current medical treatment exists, with patients receiving supportive care to ease symptoms or extend life

    Gaucher Disease

    • Autosomal recessive disorder caused by mutations in the GBA1 gene, leading to a deficiency of the enzyme beta-glucocerebrosidase
    • Characterized by the accumulation of glucocerebroside in macrophages, leading to variable expressivity of the disease
    • Symptoms include hepatosplenomegaly, anemia, bone disease, coagulation abnormalities, and lung disease

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    Description

    This quiz covers Gaucher disease type 1, the most common lysosomal storage disease, its genetic causes, and its varying symptoms. Learn about the autosomal-recessive inheritance, prevalence in Ashkenazi heritage, and the role of the GBA1 gene.

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