Publications by authors named "Eliska Konarikova"
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.
The accurate quantification of cellular and mitochondrial bioenergetic activity is of great interest in medicine and biology. Mitochondrial stress tests performed with Seahorse Bioscience XF Analyzers allow the estimation of different bioenergetic measures by monitoring the oxygen consumption rates (OCR) of living cells in multi-well plates. However, studies of the statistical best practices for determining aggregated OCR measurements and comparisons have been lacking.
View Article and Find Full Text PDFRespiratory chain complex I deficiency is the most frequently identified biochemical defect in childhood mitochondrial diseases. Clinical symptoms range from fatal infantile lactic acidosis to Leigh syndrome and other encephalomyopathies or cardiomyopathies. To date, disease-causing variants in genes coding for 27 complex I subunits, including 7 mitochondrial DNA genes, and in 11 genes encoding complex I assembly factors have been reported.
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- Many patients with Mendelian disorders don't receive genetic diagnoses despite exome sequencing, largely due to variants in non-coding regions.
- This study highlights the effectiveness of transcriptome sequencing, successfully diagnosing 10% of mitochondriopathy patients and suggesting genes for others.
- Researchers identified key genetic anomalies in patient fibroblasts, including aberrant gene expressions and splicing events, and discovered a new disease-associated gene linked to a certain complex in mitochondrial function.
Multiple acyl-CoA dehydrogenase deficiencies (MADDs) are a heterogeneous group of metabolic disorders with combined respiratory-chain deficiency and a neuromuscular phenotype. Despite recent advances in understanding the genetic basis of MADD, a number of cases remain unexplained. Here, we report clinically relevant variants in FLAD1, which encodes FAD synthase (FADS), as the cause of MADD and respiratory-chain dysfunction in nine individuals recruited from metabolic centers in six countries.
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