Podcast
Questions and Answers
Which type of mutations are disorders of nuclear genes?
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?
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?
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?
What gives rise to different clinical phenotypes in mitochondrial cytopathies?
What are the two human disease groups resulting from disturbed mtDNA maintenance mechanisms?
What are the two human disease groups resulting from disturbed mtDNA maintenance mechanisms?
What is the main factor contributing to the variability in clinical manifestation of mitochondrial cytopathies?
What is the main factor contributing to the variability in clinical manifestation of mitochondrial cytopathies?
Which type of mutations are mitochondrial DNA point mutations?
Which type of mutations are mitochondrial DNA point mutations?
What are the mitochondrial disorders of nuclear DNA origin?
What are the mitochondrial disorders of nuclear DNA origin?
Which syndrome is the most common nuclear defect in mitochondrial proteins for mtDNA integrity?
Which syndrome is the most common nuclear defect in mitochondrial proteins for mtDNA integrity?
What is the usual age of onset for PEO syndrome?
What is the usual age of onset for PEO syndrome?
What are the clinical characteristics of PEO syndrome?
What are the clinical characteristics of PEO syndrome?
What combination of symptoms identifies the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)?
What combination of symptoms identifies the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)?
How is PEO syndrome transmitted in most cases?
How is PEO syndrome transmitted in most cases?
What is the less common mode of transmission for PEO syndrome?
What is the less common mode of transmission for PEO syndrome?
What is the main feature of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)?
What is the main feature of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)?
What type of abnormalities can be found in the mitochondria of individuals with PEO syndrome?
What type of abnormalities can be found in the mitochondria of individuals with PEO syndrome?
What is the abbreviation for the mitochondrial neurogastrointestinal encephalomyopathy?
What is the abbreviation for the mitochondrial neurogastrointestinal encephalomyopathy?
