Symptoms of mitochondrial diseases and disorders of energy availability arc a consequence of abnormalities in the general function of mitochondria, the electron transport chain and related transport and assembly proteins to generate available energy in the form of ATP and to act as an effector of ...
Therapy for mitochondrial disorders: little proof, high research activity, some promise.Mitochondrial diseaseRespiratory chain deficiencyTherapyMitochondrial disorders are a common group of metabolic diseases, the largest subgroup being the respiratory chain deficiencies. The most severe forms of mitochondrial ...
Herein, we review the mechanism of mitochondrial dynamics, and its impacts on cellular function. We also delve into the changes that occur in mitochondrial dynamics during health and disease, and offer novel perspectives on how to target the modulation of mitochondrial dynamics....
calcium ions homeostasis, altered redox signaling, mutations in mitochondrial DNA as well as apoptosis are responsible for the pathogenesis of many common neurodegenerative disorders including Alzheimer's disease, Parkinson's disease, Huntington's disease, as well as many neuropsychiatric disorders. Further...
Mitochondrial disease presents with a wide spectrum of clinical manifestations that may appear at any age and cause multisystem dysfunction. A broad spectrum of movement disorders can manifest in mitochondrial diseases including ataxia, Parkinsonism, myoclonus, dystonia, choreoathetosis, spasticity, tremor,...
It is appreciated as an effective research method for exploring the potential molecular mechanism of disease. With this method, the current study analyzed how mitochondria-related genes promote the development of DCM and correlate to the immune infiltration based on associated microarray data from GEO ...
Clinical treatment trials are increasingly being designed in primary mitochondrial disease (PMD), a phenotypically and genetically heterogeneous collection of inherited multi- system energy deficiency disorders that lack effective therapy. We sought to identify motivating factors and barriers to clinical trial...
A better delineation of the movement disorders phenotypes starting in childhood may improve our diagnostic workup in MDs, fine tuning management, and treatment of affected patients. 展开 关键词: childhood onset mitochondrial disease movement disorder multicenter cross-sectional study ...
In general, the term “mitochondrial disease” refers to those disorders caused by total or partial dysfunction of the mitochondrial electron transport chain coupled to the oxidative phosphorylation (OXPHOS) system. This alteration leads to an energy deficiency in the cell (Hofmann and Bauer, 2006)....
disorders characterised by impaired mitochondrial respiration (Nicholls et al2013; Boczonadi and Horvath2014). Many regulatory factors and pathways are involved in mitochondrial gene expression and establishing the molecular details of how defects in these processes contribute to human disease constitutes ...