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Mitochondrial damage and impaired mitophagy contribute to disease progression in SCA6
Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disease that manifests in midlife and progressively worsens with age. SCA6 is rare, and...
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Mitochondrial dynamics in health and disease: mechanisms and potential targets
Mitochondria are organelles that are able to adjust and respond to different stressors and metabolic needs within a cell, showcasing their plasticity...
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The evolution of the mitochondrial disease diagnostic odyssey
BackgroundMitochondrial diseases often require multiple years and clinicians to diagnose. We lack knowledge of the stages of this diagnostic odyssey,...
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Mitochondrial homeostasis: sha** health and disease
Mitochondria serve as the primary site for metabolizing the three major nutrients, underscoring their pivotal role in cellular energy metabolism and...
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Mitochondrial quality control in acute kidney disease
Acute kidney disease (AKD) involves multiple pathogenic mechanisms, including maladaptive repair of renal cells that are rich in mitochondria....
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Altered mitochondrial function in fibroblast cell lines derived from disease carriers of spinal muscular atrophy
BackgroundSpinal muscular atrophy (SMA) is an autosomal recessive childhood-onset neuromuscular disease with a carrier frequency of ~1:50....
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Variants in mitochondrial disease genes are common causes of inherited peripheral neuropathies
BackgroundPeripheral neuropathies in mitochondrial disease are caused by mutations in nuclear genes encoding mitochondrial proteins, or in the...
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Wide diagnostic and genotypic spectrum in patients with suspected mitochondrial disease
BackgroundMitochondrial Diseases (MDs) are a diverse group of neurometabolic disorders characterized by impaired mitochondrial oxidative...
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Mitochondrial quality control in human health and disease
Mitochondria, the most crucial energy-generating organelles in eukaryotic cells, play a pivotal role in regulating energy metabolism. However, their...
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Sacubitril/valsartan ameliorates tubulointerstitial fibrosis by restoring mitochondrial homeostasis in diabetic kidney disease
BackgroundTubulointerstitial fibrosis plays an important role in the progression of diabetic kidney disease (DKD). Sacubitril/valsartan (Sac/Val)...
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Hippocampal transcriptome-wide association study and pathway analysis of mitochondrial solute carriers in Alzheimer’s disease
The etiopathogenesis of late-onset Alzheimer’s disease (AD) is increasingly recognized as the result of the combination of the aging process, toxic...
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Mitochondrial DNA damage triggers spread of Parkinson’s disease-like pathology
In the field of neurodegenerative diseases, especially sporadic Parkinson’s disease (sPD) with dementia (sPDD), the question of how the disease...
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Healthcare resource utilization of patients with mitochondrial disease in an outpatient hospital setting
Background and objectivesMitochondrial diseases present as multi-system disorders requiring a comprehensive multidisciplinary approach. The data on...
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Low Selenium and Low Protein Exacerbate Myocardial Damage in Keshan Disease by Affecting the PINK1/Parkin-mediated Mitochondrial Autophagy Pathway
ObjectiveKeshan disease (KD) is a myocardial mitochondrial disease closely related to insufficient selenium (Se) and protein intake. PTEN induced...
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Mitochondrial DNA variation in Alzheimer’s disease reveals a unique microprotein called SHMOOSE
Mitochondrial DNA variants have previously associated with disease, but the underlying mechanisms have been largely elusive. Here, we report that...
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Cyclophilin D Contributes to Airway Epithelial Mitochondrial Damage in Chronic Obstructive Pulmonary Disease
IntroductionAirway epithelial mitochondrial injury is an important pathogenesis of chronic obstructive pulmonary disease (COPD). Cyclophilin D (CypD)...
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Parkinson’s Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA
Purpose of ReviewOverwhelming evidence indicates that mitochondrial dysfunction is a central factor in Parkinson’s disease (PD) pathophysiology. This...
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The burden of mitochondrial disease with associated seizures: systematic literature reviews of health-related quality of life, utilities, costs and healthcare resource use data
BackgroundMitochondrial disease is a degenerative, progressive, heterogeneous group of genetic disorders affecting children and adults. Mitochondrial...
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Primary mitochondrial disease as a rare cause of unclear breathlessness and distinctive performance degradation – a case report
BackgroundPrimary muscular disorders (metabolic myopathies, including mitochondrial disorders) are a rare cause of dyspnea. We report a case of...
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Immunological evaluation of patients with Alzheimer's disease based on mitogen-stimulated cytokine productions and mitochondrial DNA indicators
BackgroundBased on its objective characteristics, laboratory markers have always been the research direction of clinical diagnosis and assessment of...
