Anaesthesia for patients with Leigh's syndrome has rarely been reported. Leigh's syndrome or subacute necrotizing encephalomyelopathy is a neurodegenerative disorder of infancy or childhood. Acute exacerbation with respiratory failure may accompany surgery and general anaesthesia. In this case report we describe the anaesthetic management of a 17 year old patient scheduled for spine surgery.
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Nature
January 2025
Changping Laboratory, Beijing, The People's Republic of China.
The development of animal models is crucial for studying and treating mitochondrial diseases. Here we optimized adenine and cytosine deaminases to reduce off-target effects on the transcriptome and the mitochondrial genome, improving the accuracy and efficiency of our newly developed mitochondrial base editors (mitoBEs). Using these upgraded mitoBEs (version 2 (v2)), we targeted 70 mouse mitochondrial DNA mutations analogous to human pathogenic variants, establishing a foundation for mitochondrial disease mouse models.
View Article and Find Full Text PDFJ Child Neurol
January 2025
Department of Pediatrics, Division of Child Neurology, Ankara Etlik City Hospital, Ankara, Turkey.
Mitochondrial complex I transfers electrons from NADH (nicotinamide adenine dinucleotide) to ubiquinone, facilitating ATP synthesis via a proton gradient. Complex I defects are common among the mitochondrial diseases, especially in childhood. , located in complex I's transmembrane domain, is not directly involved in catalytic activity, but the mutations are associated with Leigh syndrome and complex I defects.
View Article and Find Full Text PDFBrain Commun
December 2024
Mitochondrial Research Group, Genetics and Genomic Medicine Department, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London WC1N 1EH, UK.
This scientific commentary refers to 'Biallelic variants lead to a neurodevelopmental phenotype with gradual neurological impairment', by Kaiyrzhanov . (https://doi.org/10.
View Article and Find Full Text PDFEur J Paediatr Neurol
December 2024
University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria; Amalia Children's Hospital, Department of Paediatrics, Radboudumc, Nijmegen, the Netherlands. Electronic address:
Childhood-onset mitochondrial disorders are rare genetic diseases that often manifest with neurological impairment due to altered mitochondrial structure or function. To date, pathogenic variants in 373 genes across the nuclear and mitochondrial genomes have been linked to mitochondrial disease, but the ensuing genetic and clinical complexity of these disorders poses considerable challenges to their diagnosis and management. Nevertheless, despite the current lack of curative treatment, recent advances in next generation sequencing and -omics technologies have laid the foundation for precision mitochondrial medicine through enhanced diagnostic accuracy and greater insight into pathomechanisms.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!