Additionally, chromosomal deletion disorders whose deletions encompass genes involved in energy metabolism, could result in lactic acidosis or reduced ATP availability, which could contribute to the pathogenetic mechanism of disease.By summing all symptoms present in individual family members and considering ...
cannot be explained only by a deficiency of mitochondrial ATP synthesis. Recent evidence indicates that various mitochondrial defects elicit specific stress responses, which affect both catabolic and anabolic metabolism at the organelle, cell and tissue level, and even signalling to the whole organism. ...
This table organizes the metabolic disorders into several categories, including disorders of energy, cholesterol, vitamin, γ-aminobutyric acid (GABA), purine, pyrimidine, and amino acid metabolism and urea cycle disorders. The prominent symptoms for each disorder, not including ASD and epilepsy, ...
The ketogenic diet (KD) is a therapeutic dietary approach that has been used clinically for several decades to manage symptoms of various diseases, such as epilepsy, autism spectrum disorder, and diabetes.152,153,154The KD works by reducing carbohydrate intake and promoting FAO. The process of m...
(Zschocke et al2000; Perez-Cerda et al2005). Additionally, the neurodegenerative disorder experienced in patients with HSD17B10 deficiency is dissimilar to other disorders of isoleucine metabolism or other organic acidurias, and more closely resembles a primary mitochondrial disorder (Rauschenberger et...
Schematic representation of the mitochondrial changes during the embryonic stem cell differentiation in somatic cells. Spherical-shaped mitochondria in pluripotent stem cells become elongated in differentiated cells. This process leads to changes in the cell metabolism that switch from glycolysis to OXPHOS ...
Brain tissue depends to a large extent on mitochondrial function for its metabolism, including the maintenance of the transmembrane potential [5], calcium homeostasis [6], signal transduction [7] and synaptic plasticity [8]. Therefore, impairments in oxidative phosphorylation tend to manifest in neuro...
control subjects [25], while experimental studies confirm consistent relationships between cerebral energy metabolism and depressive symptoms. For example, behavioural outcomes in models of stress-dependent depression are linked to diminished mitochondrial O2 consumption, which is maladaptive [26]. However, ...
Mitochondria are the centers of energy and material metabolism, and they also serve as the storage and dispatch hubs of metal ions. Damage to mitochondrial structure and function can cause abnormal levels and distribution of metal ions, leading to cell dysfunction and even death. For a long time...
[1]. As mitochondria play a key role in metabolism and are involved in a wide spectrum of cellular functions, the mitochondrial dysfunction leads to both tissue-specific and systemic disorders [2]. MD can affect almost all types of tissues, to greater extent the nervous, muscle and retinal ...