Mitochondrial Cytopathies
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Questions and Answers

Which type of mutations are disorders of nuclear genes?

  • Class II mutations
  • Class I mutations (correct)
  • Mitochondrial disorders of nuclear DNA origin
  • Mitochondrial disorders with secondary effects on the OXPHOS system

    • What are the factors involved in mtDNA maintenance?

  • Oxidative phosphorylation disorders
  • Mitochondrial DNA point mutations
  • Nuclear mitochondrial genes
  • DNA processing enzymes (correct)

    • What is the range of clinical manifestations in mitochondrial cytopathies?

  • Single organ involvement only
  • Multisystem disease only
  • No clinical manifestations
  • Single organ involvement to multisystem disease (correct)

    • What gives rise to different clinical phenotypes in mitochondrial cytopathies?

    <p>Different mutations in the same mtDNA gene</p> Signup and view all the answers

    What are the two human disease groups resulting from disturbed mtDNA maintenance mechanisms?

    <p>Progressive external ophthalmoplegia and mitochondrial DNA depletion syndrome</p> Signup and view all the answers

    What is the main factor contributing to the variability in clinical manifestation of mitochondrial cytopathies?

    <p>The proportion of heteroplasmy</p> Signup and view all the answers

    Which type of mutations are mitochondrial DNA point mutations?

    <p>Class II mutations</p> Signup and view all the answers

    What are the mitochondrial disorders of nuclear DNA origin?

    <p>Progressive external ophthalmoplegia and mitochondrial neurogastrointestinal encephalomyopathy</p> Signup and view all the answers

    Which syndrome is the most common nuclear defect in mitochondrial proteins for mtDNA integrity?

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

    What is the usual age of onset for PEO syndrome?

    <p>Between 18 and 40 years</p> Signup and view all the answers

    What are the clinical characteristics of PEO syndrome?

    <p>Ophthalmoparesis and exercise intolerance</p> Signup and view all the answers

    What combination of symptoms identifies the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)?

    <p>Severe gastrointestinal dysmotility and cachexia</p> Signup and view all the answers

    How is PEO syndrome transmitted in most cases?

    <p>As an autosomal dominant trait</p> Signup and view all the answers

    What is the less common mode of transmission for PEO syndrome?

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

    What is the main feature of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)?

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

    What type of abnormalities can be found in the mitochondria of individuals with PEO syndrome?

    <p>All of the above</p> Signup and view all the answers

    What is the abbreviation for the mitochondrial neurogastrointestinal encephalomyopathy?

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

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