Organelle-Based Diseases Overview
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Questions and Answers

Which type of genetic disease is associated with changes in a single gene?

  • Monogenic (correct)
  • Aneuploidy
  • Chromosomal
  • Polygenic

    • Which organelle is associated with Tay-Sachs disease?

  • Lysosome (correct)
  • Endoplasmic Reticulum
  • Mitochondria
  • Nuclear Envelope

    • What condition is characterized by a deviation from the normal number of chromosomes?

  • Alzheimer’s disease
  • MELAS
  • Aneuploidy (correct)
  • Sickle cell anaemia

    • Which disease is linked to the cytoskeleton?

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

    Which genetic condition is associated with Trisomy 21?

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

    What are potential therapy interventions for organelle-based diseases typically focused on?

    <p>Restoring protein structure and function</p> Signup and view all the answers

    What type of chromosomal alteration involves the loss of a segment of a chromosome?

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

    Which of the following describes the process of translocation?

    <p>Exchange of material between chromosomes</p> Signup and view all the answers

    Emery-Dreifuss muscular dystrophy is primarily associated with which organelle?

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

    Which of the following diseases is classified as a lysosomal storage disease?

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

    What results from a duplication of a segment on a chromosome?

    <p>Trisomy for additional genes</p> Signup and view all the answers

    What type of genetic disorder results from the combined impact of multiple gene mutations?

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

    What is the defining feature of a ring chromosome?

    <p>Results from breaks followed by recombination into a ring structure</p> Signup and view all the answers

    What characterizes a missense mutation?

    <p>It results in a different amino acid being encoded.</p> Signup and view all the answers

    Which SNP type is specifically known for affecting drug response or disease risk?

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

    How does sickle cell trait benefit heterozygous individuals?

    <p>It provides partial protection against malaria.</p> Signup and view all the answers

    What is a typical consequence of a genetic mutation affecting a protein?

    <p>Altered protein structure and function.</p> Signup and view all the answers

    What is altered in a frameshift mutation?

    <p>The sequencing of nucleotides after the mutation.</p> Signup and view all the answers

    Which mutation results in a stop codon being produced?

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

    What is a common feature of linked SNPs?

    <p>They do not affect protein function.</p> Signup and view all the answers

    In Sickle Cell Anemia, what causes the red blood cells to have a sickle shape?

    <p>Substituting one amino acid in the β-globin.</p> Signup and view all the answers

    What type of mutation does not alter protein function but may affect gene expression?

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

    What is the result of a nonsense mutation?

    <p>A stop codon is introduced prematurely.</p> Signup and view all the answers

    What do mutations within non-coding regions typically alter?

    <p>Transcription factor binding</p> Signup and view all the answers

    What percentage of the world's population are carriers of Sickle Cell Anemia?

    <p>Approximately 7%</p> Signup and view all the answers

    Which type of cell mutation results in altered codon usage?

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

    What cellular structure is essential for maintaining cell shape and enabling movement?

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

    Which mutation is associated with Muscular Dystrophy, particularly Duchenne Muscular Dystrophy (DMD)?

    <p>Loss-of-function of dystrophin</p> Signup and view all the answers

    What characterizes Hereditary Spherocytosis at the cellular level?

    <p>Spherical shape of red blood cells</p> Signup and view all the answers

    Which of the following is NOT a symptom of Phenylketonuria (PKU) if left untreated?

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

    How does Epidermolysis Bullosa (EB) typically manifest at a cellular level?

    <p>Failure in keratinisation</p> Signup and view all the answers

    In which organelle do mitochondrial diseases such as Leigh Syndrome and MELAS primarily cause dysfunction?

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

    What type of inheritance pattern does Cystic Fibrosis follow?

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

    Which enzyme's deficiency is linked to Tay-Sachs Disease?

    <p>Beta-hexominidase A</p> Signup and view all the answers

    What is the characteristic feature of the Nuclear Envelope?

    <p>Double membraned structure</p> Signup and view all the answers

    Which treatment is commonly used for managing symptoms of Emery-Dreifuss Muscular Dystrophy?

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

    What is NOT a common symptom of Hereditary Spherocytosis?

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

    Which component of the cell is primarily responsible for ATP production?

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

    Which genetic origin is linked to Progeria?

    <p>Loss-of-function mutations in LMNA gene</p> Signup and view all the answers

    Which feature distinguishes the Rough Endoplasmic Reticulum (RER)?

    <p>Studded with ribosomes</p> Signup and view all the answers

    Study Notes

    Organelle-Based Diseases

    • Organelle-based diseases are caused by defects in specific cellular compartments.
    • Learning objectives include discussing the genetic origins of these diseases, reviewing exemplar diseases, relating protein changes to their pathology, and discussing potential therapies.

    Organelle-Based Diseases Examples

    • Cytoplasm: Sickle cell anemia
    • Lysosome: Lysosomal storage diseases (Tay-Sachs, Hurler Syndrome, Niemann-Pick, Pompe Disease)
    • Cytoskeleton: Hereditary spherocytosis, Epidermolysis bullosa, Muscular dystrophy
    • Mitochondria: Leigh Syndrome, MELAS
    • Nuclear Envelope: Progeria, Emery-Dreifuss muscular dystrophy
    • Endoplasmic Reticulum: Phenylketonuria (PKU), Endoplasmic storage disease
    • Plasma Membrane: Cystic Fibrosis (CF)
    • Golgi Apparatus: Congenital disorders of glycosylation, Alzheimer's disease

    Learning Objectives Summary

    • Understanding the genetics of organelle-based diseases
    • Recognizing specific diseases linked to various organelles in a cell
    • Understanding the link between changes in proteins (structure and function) and disease pathology
    • Examining potential treatments and interventions for those diseases

    Types of Genetic Diseases

    • Chromosomal: Changes in chromosome structure or number
    • Monogenic: Mutations within a single gene; can be dominant, recessive, or X-linked
    • Polygenic: Combined impact of mutations in multiple genes

    Chromosomal Abnormalities

    • Aneuploidy: Abnormal number of chromosomes (gain or loss)
    • Down Syndrome: Trisomy 21 (extra copy of chromosome 21)
    • Turner Syndrome: Monosomy X (missing an X chromosome)
    • Deletion: Loss of a chromosome segment
    • Duplication: Extra copy of a chromosome segment
    • Inversion: Rearranged segment within a chromosome
    • Translocation: Exchange of material between chromosomes
    • Ring chromosome: Circular chromosome formation

    Germline vs Somatic Mutations

    • Germline: Mutations present in germ cells (sperm or egg) and can be passed to offspring
    • Somatic: Mutations occur after conception in body cells and are not passed to offspring

    SNPs vs Point Mutations

    • SNPs (Single Nucleotide Polymorphisms): Common genetic variations where one nucleotide is different; typically found in non-coding regions.
    • Point Mutations: Rare change in a single nucleotide that often alters protein structure.

    SNP Population Distribution

    • Some SNPs have no effect on gene function. Others are causative.
    • Causative SNPs affect protein function and correlate with diseases or drug responses.
    • Linked SNPs do not directly affect protein or disease, but can be associated for other reasons (such as drug interactions or disease risks)

    Mutations Affecting Protein Function

    • Missense mutations: Change in amino acid sequence
    • Nonsense mutations: Introduces a premature stop codon
    • Frameshift mutations: Insertion or deletion of nucleotides, altering the reading frame

    Mutations Affecting Gene Expression

    • Silent/synonymous mutations: No change in amino acid sequence
    • Mutations within non-coding regions: Affect gene expression regulation.

    Typical Consequences of Genetic Diseases

    • Gene defect = altered protein expression = abnormal protein function = altered chemistry = clinical symptoms

    Cell Structures

    • Cytoskeleton: Network of filaments and tubules giving cells shape & organization
    • Mitochondria: Powerhouses of the cell, involved in ATP production.
    • Nuclear Envelope: Membrane surrounding the nucleus.
    • Endoplasmic Reticulum (ER): Network within the cytoplasm, synthesizes proteins and lipids.
    • Plasma Membrane: Outer boundary of the cell, regulates transport
    • Golgi Apparatus: Processes and packages proteins
    • Lysosomes: Contain enzymes to break down wastes

    Specific Disease Examples

    • Sickle Cell Anemia: Missense mutation in B-globin gene
    • Hereditary Spherocytosis: Defective proteins anchor the protein to the plasma membrane leading to RBC shape.
    • Epidermolysis Bullosa (EB): Mutations in proteins (collagen VII/keratin) result in skin blistering.
    • Muscular Dystrophy (MD): Loss-of-function mutations in various genes; DMD-causing dystrophin loss.
    • Duchenne muscular dystrophy: X-linked recessive; loss-of-function mutation in dystrophin gene.
    • Progeria: Mutations altering prelamin A processing to lamin A.
    • Emery-Dreifuss Muscular Dystrophy: Loss-of-function mutations affecting lamin or emerin.
    • Phenylketonuria (PKU): Missing PAH enzyme, causes phenylalanine buildup.
    • Cystic Fibrosis (CF): Defective CFTR chloride transmembrane protein
    • Leigh Syndrome: Mutation interfering with the electron transport chain
    • MELAS: Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes.
    • Lysosomal Storage Disease: Enzymes deficient to break down particular cellular components; Tay-Sachs; Pompe Disease

    Discussion Question

    • Why is understanding basic cell compartment function important for understanding diseases and developing treatments?

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    Organelle-Based Diseases: A Deep Dive PDF

    Description

    This quiz explores organelle-based diseases caused by defects in cellular compartments. You'll learn about the genetic origins, recognizable diseases, and how protein changes relate to their pathologies. Additionally, the potential therapies for these diseases will be discussed.

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