12 Questions
What complicates the analysis of nDNA variants?
Incorporation of mtDNA bits into nDNA
Which is a characteristic of mitochondrial disease phenotypes?
Cell-type specific manifestations
What is involved in the clinical diagnosis of mitochondrial diseases?
Phenomic and metabolomic markers
What is the trend in the discovery of nDNA variants over the last decade?
About 20 newly discovered each year
What is the focus of genetic testing when it comes to mtDNA?
Complete genome sequence with the ability to detect > 5% heteroplasmy
What is the trend in genetic testing due to the complexity of phenotypic features?
Early genetic testing
What is the potential of genetic therapy for nDNA causing variants?
Cure potential
What technology can be used for future offspring for mtDNA variants?
Assisted reproductive technologies
What is the main focus of treatment for genetic diseases?
Slowing progression of the disease and supportive care
What is used in genetic therapy for mtDNA complicated by inaccessibility?
Current clinical trials using nDNA gene transfer
What is observed in initial clinical trials using gene-containing virus for LHON?
Improvement in best-corrected visual acuity in both eyes
What is the purpose of the mitochondrial protein targeting sequence in gene transfer for LHON?
Fused to the repaired protein
Test your knowledge of mitochondrial DNA variants and their impact on mitochondrial diseases with this quiz. Explore the clinical heterogeneity of mitochondrial diseases and the challenges of analyzing nDNA variants with SNVs, copy number changes, and deletions. Discover the complexities of isolating and sequencing mtDNA bits within nDNA.
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