Publications by authors named "Zuzana Korandova"
Article Synopsis
- Mitochondrial diseases are serious inherited disorders primarily affecting children, linked to issues with the mitochondrial energy production system known as oxidative phosphorylation (OXPHOS).
- While mitochondrial DNA mutations account for only 25% of pediatric cases and next-gen sequencing can be inconclusive, biochemical methods remain important for accurate diagnosis.
- The study introduced a method for isolating and cryopreserving peripheral blood mononuclear cells (PBMCs) from children's blood, achieving a 72% diagnosis confirmation rate in mitochondrial disease cases using high-resolution oxygraphy, though false negatives occurred in 13% of instances.
Article Synopsis
- Disruptions in the heme biosynthetic pathway, such as decreased protoporphyrinogen oxidase IX (PPO) activity, lead to porphyrias, notably variegate porphyria, affecting heme production.
- Researchers created human cell lines with inactivated PPO using CRISPR/Cas9, which showed normal growth but accumulated protoporphyrinogen IX and exhibited low heme levels, impacting cellular respiration.
- Proteomic analysis indicated significant changes in 22 proteins, with an upregulation of key heme biosynthesis regulators, and reintroducing PPO reversed the effects, demonstrating the model's utility in studying variegate porphyria's metabolic disruptions.
While >300 disease-causing variants have been identified in the mitochondrial DNA (mtDNA) polymerase γ, no mitochondrial phenotypes have been associated with POLRMT, the RNA polymerase responsible for transcription of the mitochondrial genome. Here, we characterise the clinical and molecular nature of POLRMT variants in eight individuals from seven unrelated families. Patients present with global developmental delay, hypotonia, short stature, and speech/intellectual disability in childhood; one subject displayed an indolent progressive external ophthalmoplegia phenotype.
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