Q33.Gaucher disease is a genetic disorder which is associated with
(A) Endoplasmic reticulum
(B) Golgi apparatus
(C) Peroxisome
(D) Lysosomes
The correct answer is (D) Lysosomes. Gaucher disease results from deficient lysosomal enzyme activity, causing glucocerebroside buildup in macrophages.
Option Explanations
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(A) Endoplasmic reticulum: The ER synthesizes proteins and lipids, handles folding, and manages stress responses. It is not involved in Gaucher disease pathology.
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(B) Golgi apparatus: The Golgi modifies, sorts, and packages proteins/lipids for secretion or lysosomes. Defects here cause other storage disorders, but not Gaucher.
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(C) Peroxisome: Peroxisomes break down fatty acids and detoxify peroxides. Mutations affect them in disorders like Zellweger syndrome, unrelated to Gaucher.
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(D) Lysosomes: Lysosomes degrade macromolecules via hydrolytic enzymes like glucocerebrosidase (GBA). In Gaucher, GBA1 mutations cause glucosylceramide accumulation in lysosomal “Gaucher cells,” leading to hepatosplenomegaly and bone issues.
Gaucher disease genetic disorder lysosomes defines this lysosomal storage condition where enzyme deficiency leads to toxic lipid accumulation in cells, primarily macrophages.
Pathophysiology Details
Mutations in the GBA1 gene on chromosome 1q22 impair acid β-glucosidase, preventing glucosylceramide (GlcCer) hydrolysis in lysosomes. This creates “crumpled tissue paper”-like Gaucher cells in spleen, liver, bone marrow. Three types exist: Type 1 (non-neuronopathic), Types 2/3 (neuronopathic).
Organelle Role Comparison
Lysosomal dysfunction drives pathology.
Clinical Relevance
Symptoms include anemia, thrombocytopenia, hepatosplenomegaly; enzyme therapy restores function. For exams, remember lysosomes distinguish Gaucher from other organelle disorders.
