Global ETD Search
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Showing 1 to 12 of 12 for “"mitochondrial disorders"”.
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Hypoglycemia In Mitochondrial Disorders
… of adenosine triphosphate (ATP). Defects in the mitochondrial or nuclear DNA that codes for components of the ETC lead to mitochondrial disorders (MTDs). MTDs are multi-system conditions affecting the heart, muscles, and especially brain. The endocrine system is commonly affected in MTDs, and …
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Genotype and phenotype in mitochondrial disorders
Mitochondrial disorders are inherited metabolic conditions caused by pathogenic variants in genes affecting oxidative phosphorylation and ATP synthesis. They are a heterogeneous group of disorders with an incidence of 1 in 5000. They can affect a single organ or multiple systems, with age of onset …
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Mitochondrial disorders in the South African context : a clinical and biochemical approach
In the past, patients with suspected mitochondrial disorders (MDs) were identified only phenotypically in South Africa. However, the specific population-related characteristics were unknown and not documented. Up to as late as 1998, no facility was available in South Africa to confirm the diagnosis …
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Investigation into Tissue-Specific Mechanisms of Mitochondrial Dysfunction: Models of SUCLA2 Deficiency and a Screen for Potential Genetic Modifiers
With no currently effective treatments available, mitochondrial diseases are one of the most common forms of inherited multisystem disease. Primary disorders of the mitochondria affect an estimated 1 in 4,300 people with typical onset in early childhood. Mitochondrial disorders are classically …
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Oxygen, the invisible orchestrator of metabolism and disease : a focus on mitochondrial And peroxisomal dysfunction
… consequences on human physiology and health. Mitochondrial disorders are the most common inborn errors of metabolism, affecting approximately 1 in 5000 live births. Patients can present in infancy or adulthood with symptoms affecting multiple organ systems including blindness, deafness, muscle …
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Novel time resolved optical and machine learning methods for label free biomedical imaging
… methods for cell and tissue diagnosis. Mitochondrial disorder is a type of disorder that affects the cell's mitochondria and impacts the cell's functionality as a whole. Roughly, these mitochondrial disorders affect between 1 in 6000 and 1 in 8000 live births. These disorders are hard to …
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The effects of complex I deficiency on neurogenesis and white matter development in a mouse model of Leigh Syndrome (LS)
… (LS) is one of the most prevalent inherited mitochondrial disorders in pediatric population, typically presenting in early childhood with psychomotor regression and progressive neurological decline. Current understanding suggests that pathogenic variants affecting mitochondrial …
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Investigating Cell-Type-Specific Vulnerability in Mitochondrial Disease Using Stem Cell-Derived Neuronal Models
Mitochondrial diseases are a group of widely heterogeneous genetic disorders that primarily affect tissues with high energy demands. Although disruption of oxidative phosphorylation is a shared hallmark across these conditions, their clinical manifestations display remarkable tissue specificity, …
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Mitochondrial metabolism and CNS myelination
… of white matter involvement in patients with mitochondrial disorders has been increasing. Given the high-energy demand nature of the brain, this tissue is preferentially affected by energy deficiency caused by mitochondrial dysfunctions. After birth, partial oxygen pressures rise in the …
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Studies on assembly and genetic variation in mitochondrial respiratory complex I
… to proton translocation across the inner mitochondrial membrane, to drive the synthesis of ATP. Its distinctive L-shaped structure comprises 45 subunits, encoded by both the mitochondrial and nuclear genomes, which are assembled by a complicated modular pathway. Complex I genetic defects …
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Mechanisms Controlling the Segregation of Mitochondrial DNA Heteroplasmy
Mutations of the mitochondrial DNA (mtDNA) are often the cause behind primary mitochondrial disorders affecting 1:5000 individuals. However, the full extent of the impact that mtDNA mutations have is yet to be comprehensively understood. One of the main reasons behind our slow progress in the …
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Mitochondrial function in sepsis - Temporal evolvement of respiratory capacity in human blood cells
… been described as part of the septic syndrome. Mitochondrial dysfunction has been suggested to be a contributing factor in the pathogenesis of these alterations and restoration of mitochondrial function has been implicated as a prerequisite for the recovery from sepsis. Further, platelets have …