17 Questions
Which type of mutations are disorders of nuclear genes?
Class I mutations
What are the factors involved in mtDNA maintenance?
DNA processing enzymes
What is the range of clinical manifestations in mitochondrial cytopathies?
Single organ involvement to multisystem disease
What gives rise to different clinical phenotypes in mitochondrial cytopathies?
Different mutations in the same mtDNA gene
What are the two human disease groups resulting from disturbed mtDNA maintenance mechanisms?
Progressive external ophthalmoplegia and mitochondrial DNA depletion syndrome
What is the main factor contributing to the variability in clinical manifestation of mitochondrial cytopathies?
The proportion of heteroplasmy
Which type of mutations are mitochondrial DNA point mutations?
Class II mutations
What are the mitochondrial disorders of nuclear DNA origin?
Progressive external ophthalmoplegia and mitochondrial neurogastrointestinal encephalomyopathy
Which syndrome is the most common nuclear defect in mitochondrial proteins for mtDNA integrity?
PEO
What is the usual age of onset for PEO syndrome?
Between 18 and 40 years
What are the clinical characteristics of PEO syndrome?
Ophthalmoparesis and exercise intolerance
What combination of symptoms identifies the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)?
Severe gastrointestinal dysmotility and cachexia
How is PEO syndrome transmitted in most cases?
As an autosomal dominant trait
What is the less common mode of transmission for PEO syndrome?
Autosomal recessive
What is the main feature of mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)?
Gastrointestinal dysmotility
What type of abnormalities can be found in the mitochondria of individuals with PEO syndrome?
All of the above
What is the abbreviation for the mitochondrial neurogastrointestinal encephalomyopathy?
MNGIE
Test your knowledge on the clinical manifestations of mitochondrial cytopathies. Learn about the diverse range of symptoms and how different mutations contribute to the variability in clinical phenotypes.
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