Genetic Metabolic Disorders Overview
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Questions and Answers

Which condition is characterized by the accumulation of glycogen within cells?

  • Mitochondrial myopathy
  • Huntington’s disease
  • Tay-Sachs
  • Lysosomal glycogen storage disease (correct)

    • What primary issue is associated with Kartagener disorder?

  • Myelin sheath destruction
  • Lactic acid buildup
  • Protein accumulation in cells
  • Immotile spermatozoa (correct)

    • Which of the following diseases is NOT a lysosomal storage disorder?

  • Gaucher disease
  • Tay-Sachs
  • Pompe disease
  • Alzheimer’s disease (correct)

    • What problem is primarily associated with mitochondrial disorders?

    <p>Lactic acid accumulation (C)</p> Signup and view all the answers

    Which condition is specifically known for causing loss of dopaminergic neurons?

    <p>Parkinson’s disease (B)</p> Signup and view all the answers

    What type of cellular damage is most commonly associated with defective proto-oncogenes?

    <p>Damage to DNA (A)</p> Signup and view all the answers

    Which of the following conditions is associated with chronic respiratory infections due to ciliary dysfunction?

    <p>Kartagener syndrome (A)</p> Signup and view all the answers

    What is a primary effect of Celiac disease on the small intestine?

    <p>Loss of microvilli due to immune reaction (D)</p> Signup and view all the answers

    Which condition is a result of excessive lysis of red blood cells?

    <p>Hemolytic anemia (D)</p> Signup and view all the answers

    Which bacterium is known to cause gastric ulcers and disrupt tight-junction proteins?

    <p>Helicobacter pylori (D)</p> Signup and view all the answers

    What causes deafness and peripheral neuropathy according to the mentioned conditions?

    <p>Mutation in connexin genes (C)</p> Signup and view all the answers

    What is the role of myofibroblasts in wound healing?

    <p>Responsible for wound contraction (D)</p> Signup and view all the answers

    Which of the following diseases is characterized by the accumulation of Glycosaminoglycans?

    <p>Hurler syndrome (B)</p> Signup and view all the answers

    What does Clostridium bacteria cause in relation to intestinal health?

    <p>Food poisoning and intestinal disruption (B)</p> Signup and view all the answers

    Which cell type primarily contributes to tissue repair following connective tissue injury?

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

    In pathological conditions, how do macrophages respond when adequately stimulated?

    <p>Increase in size and form clusters (D)</p> Signup and view all the answers

    What characterizes Huntington chorea?

    <p>Loss of basal ganglia neurons (C)</p> Signup and view all the answers

    Which of the following describes multiple sclerosis?

    <p>Loss of myelin and oligodendrocytes (A)</p> Signup and view all the answers

    Hydrocephalus is primarily caused by which of the following?

    <p>Decreased absorption of cerebrospinal fluid (C)</p> Signup and view all the answers

    What results from metaplasia in heavy smokers?

    <p>Transformation of respiratory epithelium to stratified squamous epithelium (A)</p> Signup and view all the answers

    What is a potential outcome of Kartagener syndrome?

    <p>Chronic respiratory infections (B)</p> Signup and view all the answers

    AIDS dementia complex results from which specific action of HIV-1?

    <p>Replication of microglia (A)</p> Signup and view all the answers

    Bladder metaplasia is characterized by a transformation from which type of epithelium?

    <p>Transitional to squamous epithelium (C)</p> Signup and view all the answers

    What is a defining feature of adenocarcinomas?

    <p>Derived from glandular epithelium (B)</p> Signup and view all the answers

    What condition is characterized by an autoimmune response against acetylcholine receptors primarily affecting the extraocular muscles?

    <p>Myasthenia gravis (A)</p> Signup and view all the answers

    Which condition results from a defect in the dystrophin gene, affecting muscle tissue?

    <p>Duchenne muscular dystrophy (C)</p> Signup and view all the answers

    What is the main cause of lung emphysema related to α1-antitrypsin deficiency?

    <p>Increased elastase activity (C)</p> Signup and view all the answers

    Which of the following conditions is marked by an imbalance in skeletal turnover where resorption exceeds formation?

    <p>Osteoporosis (A)</p> Signup and view all the answers

    What condition is described by overgrowth of granulation tissue which is eventually replaced by collagen type I?

    <p>Keloid (D)</p> Signup and view all the answers

    Which of the following conditions involves a defect in bone resorption leading to dense heavy bones?

    <p>Osteopetrosis (D)</p> Signup and view all the answers

    What condition is characterized by a significant reduction in intercellular water content in the cartilage matrix due to chondrocyte activity?

    <p>Osteoarthritis (D)</p> Signup and view all the answers

    What is the primary characteristic of rickets in children?

    <p>Calcium deficiency (A)</p> Signup and view all the answers

    Study Notes

    Lysosomal Storage Disorders

    • Lysosomal glycogen storage disease: accumulation of glycogen. Degenerative disease of the Central Nervous System
    • Tay-Sachs: loss of optic nerve fibers, several neural degenerations
    • Accumulation of large amounts of liquids

    Mitochondrial Disorders

    • Mitochondrial myopathy: degenerative disease of the brain's white matter
    • Metabolic disturbances and accumulation of lactic acid
    • All are maternally inherited
    • MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes)
    • MERRF (Myoclonic Epilepsy with Ragged Red Fibers):

    Proteosome Disorders

    • Alzheimer's disease and Huntington's disease are closely related to the accumulation of proteins inside the cell due to the failure of degeneration by protesomes

    Defective Peroxisomal Proteins

    • Adrenoleukodystrophy: destroys the myelin sheaths in nerves

    Kartagener

    • Defect in microtubules (dynein arm mutations) leads to immotile spermatozoa, male infertility and frequent respiratory infections

    Hemochromatosis

    • Accumulation of iron in hemosiderin
    • Hemosiderosis: excessive lysis of red blood cells

    ### Parkinson's Disease

    • Degenerative disease caused by the loss of dopaminergic neurons from the brain's substantiated nigra

    Huntington's Chorea

    • Hereditary disease caused by the loss of basal ganglia neurons

    Multiple Sclerosis

    • Disease of the Central Nervous System
    • Characterized by a loss of myelin and plaque formation
    • Leukocytes (T cells) initiate an inflammatory response
    • Loss of Oligodendrocytes and axon demyelination

    Guillain–Barré Syndrome

    • Autoimmune syndrome of the Peripheral Nervous System
    • Immune destruction of Schwann cells results in demyelination and axonal degeneration

    Hydrocephalus

    • Decrease in the absorption of Cerebrospinal Fluid (CSF) or blockage of outflow from the ventricles leading to an enlarged head
    • Mental impairments are possible

    AIDS Dementia Complex

    • HIV-1 infection of the Central Nervous System
    • Infection of microglia
    • Replication of HIV-1 in microglia

    Metaplasia

    • Transformation of one type of epithelial tissue to another
    • Respiratory epithelium in heavy smokers can be transformed to stratified squamous epithelium
    • Transformation of transitional to squamous epithelium in the bladder

    Barrett Esophagus

    • In cases of chronic acid reflux, the esophagus is replaced by glandular mucus-secreting epithelium

    Epithelial Cell Tumours

    • Carcinomas: malignant tumor from surface epithelia
    • Adenocarcinomas: malignant tumor from glandular epithelium

    Polycystic Kidney Disorder

    • Loss of microvilli (brush border) in the small intestine caused by an immune reaction against the wheat protein gluten

    Celiac Disease

    • Enterotoxin from Clostridium bacteria causes food poisoning
    • Enterotoxin binds claudine, resulting in the disruption of tight junctions, diarrhea and intestinal ulcers

    Pemphigus vulgaris

    • Production of antibodies against the desmosomal proteins leading to widespread skin and mucous membrane blistering

    Helicobacter Pylori

    • Causes gastric ulcers
    • Binds to the extracellular domains of tight junction proteins

    Mutation in Connexin Genes

    • Causes deafness and peripheral neuropathy

    Macrophages in pathological conditions

    • When adequately stimulated, they grow and arrange in clusters forming epithelioid cells
    • Several may fuse to form multinuclear giant cells

    Regenerative Capacity of Connective Tissue

    • The spaces left after injury are filled by connective tissue which doesn't divide and forms a scar
    • Fibroblasts are the main cell type involved in repair
    • Myofibroblasts are responsible for wound contraction

    Myeloma

    • Multiple Myeloma: tumor of plasma cells in the bone marrow due to accumulation of myeloma cells

    Hurler Syndrome

    • Accumulation of Glycosaminoglycans
    • Accumulation of mucopolysaccharides

    Hunter Syndrom

    • Accumulation of mucopolysaccharides

    Marfan Syndrome

    • Defect in fibrillin-1, a protein involved in connective tissue formation.

    Duchenne Muscular Dystrophy

    • Mutations of the dystrophin gene leading to defective linkages between the cytoskeleton and the extracellular matrix

    ### Lung Emphysema

    • Defect in α1-antitrypsin leads to increased elastase activity
    • Elastase damages lung alveoli due to the loss of supporting elastic fibers

    Myasthenia Gravis

    • Autoimmune disorder that involves circulating antibodies against proteins of acetylcholine receptors
    • The extraocular muscles of the eyes are commonly the first affected

    Keloid

    • Overgrowth of granulation tissue (collagen III) at the site of a healed skin injury which is slowly replaced by collagen type 1

    Osteoarthritis

    • Degenerative joint disease, reduction of proteoglycan results in reduced intracellular water content in the cartilage matrix, chondrocytes stimulate metalloproteinases which inhibits type II collagen and proteoglycans.

    Osteopetrosis

    • Dense heavy bones caused by a lack of osteoclastic activity leading to a defect in bone resorption

    Osteoporosis

    • Imbalance in skeletal turnover, bone resorption exceeds bone formation
    • This can be caused by immobilization or postmenopausal women

    Osteosarcomas

    • Malignant osteoblasts located in the periosteum

    Osteomalacia

    • Softening of adult bone due to calcium deficiency
    • Results in bone fragility and pain

    Rickets

    • Calcium deficiency in children
    • Characterized by bone deformities

    Paget Disease

    • Increased activity of osteoblasts and osteoclasts leading to weaker than normal bone

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    Description

    This quiz covers various genetic metabolic disorders, including lysosomal storage disorders, mitochondrial disorders, proteosome disorders, and defective peroxisomal proteins. Each topic delves into specific conditions like Tay-Sachs, MELAS, and adrenoleukodystrophy, providing insight into their characteristics and implications. Test your knowledge on these complex genetic conditions and their impact on health.

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