نتایج جستجو برای: mitochondrial disease
تعداد نتایج: 1603053 فیلتر نتایج به سال:
INTRODUCTION Mitochondrial genetics are an important but largely neglected area of research in Alzheimer's disease. A major impediment is the lack of data sets. METHODS We used an innovative, rigorous approach, combining several existing tools with our own, to accurately assemble and call variants in 809 whole mitochondrial genomes. RESULTS To help address this impediment, we prepared a dat...
AIM To evaluate the association with diabetic kidney disease of single nucleotide polymorphisms (SNPs) that may contribute to mitochondrial dysfunction. METHODS The mitochondrial genome and 1039 nuclear genes that are integral to mitochondrial function were investigated using a case (n = 823 individuals with diabetic kidney disease) vs. control (n = 903 individuals with diabetes and no renal ...
OBJECTIVE To directly compare the diagnostic utility of growth differentiation factor-15 (GDF-15) with our previous fibroblast growth factor-21 (FGF-21) findings in the same adult mitochondrial disease cohort. METHODS Serum GDF-15 levels were measured using a quantitative ELISA. Statistical analyses of GDF-15 data were compared with our published FGF-21 findings. RESULTS Median serum GDF-15...
In a 80yo female with acute pancreatitis, myopathy, polyneuropathy, short stature, diabetes mellitus, hypothyroidism, hypoacusis, atrial fibrillation, hepatopathy, and renal cysts, mitochondrial disease was diagnosed. The family history for the disease was negative. Interestingly, the patient additionally presented with brachydactylia, which was also found in her son and father and has not been...
Neurons are metabolically active cells with high energy demands at locations distant from the cell body. As a result, these cells are particularly dependent on mitochondrial function, as reflected by the observation that diseases of mitochondrial dysfunction often have a neurodegenerative component. Recent discoveries have highlighted that neurons are reliant particularly on the dynamic propert...
Biochemical and morphological alterations of mitochondria may play an important role in the pathogenesis of Alzheimer's disease (AD). Particularly, mitochondrial dysfunction is a hallmark of amyloid-beta-induced neuronal toxicity in Alzheimer's disease. The recent emphasis on the intracellular biology of amyloid-beta and its precursor protein (APP) has led researchers to consider the possibilit...
Mitochondrial pH (pHmito) is intimately related to mitochondrial function, and aberrant values for pHmito are linked several disease states. We report the design, synthesis, application of mitokyne 1—the first small molecule sensor stimulated Raman scattering (SRS) microscopy. This ratiometric probe can determine subtle changes in response external stimuli inhibition both electron transport cha...
Abstract Glaucoma is a neurodegenerative disease that affects eye structures and brain areas related to the visual system. Oxidative stress plays key role in development progression of disease. The aims present study were evaluate mitochondrial function its participation redox metabolism an experimental glaucoma model. 3-month-old female Wistar rats subjected cauterization two episcleral veins ...
Mitochondrial diseases are heterogeneous disorders, caused by mitochondrial dysfunction. Mitochondria are not regulated solely by nuclear genomic DNA but by mitochondrial DNA. It is difficult to develop effective therapies for mitochondrial disease because of the lack of mitochondrial disease models. Mitochondrial myopathy, encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is...
Introduction: Melatonin is a hormone secreted from the pineal gland and plays an important role in regulating the brain functions. This hormone with antioxidant activity supports the body against internal and external damaging factors. Melatonin reduces the production of free radicals by preserving mitochondrial homeostasis, and contributes to ATP synthesis in mitochondria. Reduction of melaton...
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