Articles tagged with Mitochondrial Diseases
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Emerging from a need to understand organelle interactions, researchers have developed OrthoID, a novel strategy that refines protein identification at organelle contact sites. This method uses mutually orthogonal binding pairs to label and isolate proteins involved in cellular communication.
Researchers found that CMS121 reduced body weight gain by 40% and improved glucose and lipid indexes in aging mice. The compound also showed anti-inflammatory effects and increased mitochondrial biogenesis, suggesting potential therapeutic applications for metabolic diseases.
A genetic variant affecting mitochondrial POLG enzyme function delays viral infection detection, leading to delayed severe inflammation and brain/liver damage. This mechanism explains variable ages of onset and manifestations of neurological diseases like MIRAS in patients carrying the variant.
Long-term treatment with methylene blue (MB) and mitoquinone (MitoQ) did not alter age-related bone loss in mice. Antioxidant interventions are insufficient to inhibit skeletal aging, suggesting alternative approaches may be needed.
Researchers discovered ERMA, a cellular transport 'pump', plays a crucial role in guiding magnesium to heart cells. Targeting ERMA could lead to new treatments for heart conditions by maintaining stable calcium balances.
McGill researchers have made a groundbreaking discovery about Spinocerebellar ataxia type 6, a rare and devastating neurodegenerative disease. Damaged mitochondria in the cerebellum are found to contribute to disease progression.
A team of researchers from the Medical University of South Carolina has discovered a novel protective response by which the brain naturally repairs itself after traumatic brain injury. Protein p17 plays a crucial role in this process, triggering the restorative mechanism of mitophagy to remove damaged tissue and initiate healing.
Researchers found that impaired mitochondrial unfolded protein response causes accelerated telomere shortening in both oocytes and somatic cells of aging mice. This study highlights the link between loss of mitochondrial protein homeostasis, infertility, and somatic aging.
Researchers discovered that aggregates prevent silencing of stress response in brain cells, leading to cell death. A new treatment involves administering a drug to turn off the stress response and keeping SIFI turned on to clean up protein aggregates.
A Scripps Research team identified the energetic reactions in brain cells that malfunction and lead to neurodegeneration. They successfully restored many neuron-to-neuron connections in nerve cell models derived from human Alzheimer's patient stem cells by addressing a bottleneck in mitochondrial energy production.
A study published in Science Advances identifies a mitochondrial protein called MCJ as the first therapeutic target to preserve cardiac function in pulmonary hypertension. Modulating MCJ levels can activate a signaling pathway essential for adaptation to low oxygen levels, protecting the heart.
Researchers at Nagoya University have discovered a relationship between ALS progression and the disruption of mitochondria-associated membranes (MAM) and TBK1 activity. Decreased activation of TBK1 is linked to motor neuron death in ALS patients and mice with disrupted MAM.
Researchers discuss reductive carboxylation of glutamine as a potential target in acute myeloid leukemia (AML), an aggressive cancer with poor patient outcomes. The approach aims to weaken tumor cell survival mechanisms, potentially leading to novel therapies and improved patient outcomes.
A UC San Diego study found biomarkers in blood that can help identify individuals at high risk of becoming suicidal, offering a new approach to personalize mental health care. The researchers also discovered sex-based differences in how depression impacts cell metabolism and identified potential targets for future drugs.
A new study found that HSP10 treatment improved exploratory preferences, object contacts, and swimming time in aged mice, while also increasing proliferating cells and differentiated neuroblasts. The protein also mitigated age-related gene reductions and increased sirtuin 3 levels.
Researchers have identified a breakthrough in understanding the molecular mechanisms of Barth syndrome, a genetic disorder with a high mortality rate. A chemical compound blocking a specific complex has been found to be effective in treating the disease, providing a new avenue for clinical trials.
Researchers found that treating C. elegans with mitochondrial inhibitors extended their lifespan, improved pharyngeal muscle contraction, reduced lipofuscin content, and decreased energy consumption. The study suggests that these drugs could abrogate aging and extend human lifespan, offering a potential therapeutic approach.
Researchers identified a novel bacterial protein, MceF, that can prolong cell longevity by acting directly on mitochondria. The discovery could lead to new treatments for diseases relating to mitochondrial dysfunction, such as cancer and auto-immune disorders.
Researchers created an immunodeficient mouse model of physiological ovarian aging, mirroring female fertility decline with age. The study found decreased oocyte quality, impaired follicle activation and growth, and increased mitochondrial dysfunctions in Old mice.
A new Duke University-led study finds that Gulf War Illness significantly reduces the ability of white blood cells to make energy, creating measurable biochemical differences in veterans with the disease. The study reveals impaired mitochondrial function, leading to lower levels of extracellular acidification and oxygen consumption.
Researchers at Karolinska Institutet have discovered that a metabolic increase in the hippocampus is an early indicator of Alzheimer's disease. The study found that changes in mitochondrial metabolism precede synaptic disorganization and impaired autophagy, highlighting potential new methods for early intervention.
Researchers have revealed a revolutionary new understanding of how proteins enter mitochondria, correcting long-held assumptions about the TIM complex. High-resolution cryo-electron microscopy data and advanced biochemical methods were used to re-evaluate old data and map functional organization in great detail.
A novel procedure using a refined technique and narrower tube has reduced the risk of transmitting mitochondrial disease during assisted reproduction. The study found that the new protocol resulted in normal development of embryos and healthy offspring, with minimal transfer of maternal mitochondria to the offspring.
A research team has developed a technology that selectively targets and eliminates aging cells, contributing to various inflammatory conditions. This approach represents a new paradigm for treating age-related diseases with minimal toxicity concerns.
Researchers developed three new two-photon probes that can visualize organelles in cells, enabling better understanding of cellular functions and tissue imaging. The probes are designed to detect pH levels, viscosity, and ionic species, providing more specific insights into cell viability and treatment responses.
A significant breakthrough sheds light on Parkinson's disease mechanisms, revealing that mitochondrial DNA damage triggers the spread of debilitating symptoms. The researchers' findings offer promising potential for innovative treatments and diagnostics.
A new study explores how alpha-synuclein disrupts metabolic processes in neurons. Researchers used NanoSIMS imaging techniques to visualize isotopic variations and found changes in carbon turnover, suggesting increased metabolic demands on affected cells.
Researchers use Listeria bacteria to break open cell organelles and study their function in relation to shape. They found that function does not always follow form, with cells recognizing and increasing efforts to remove misshapen organelles.
Researchers from Children's Hospital of Philadelphia developed a noninvasive MRI method for adult zebrafish, capturing high-resolution images of organs. The study found significant brain growth in zebrafish with SURF1 gene deficiency and smaller heart and spinal cord volumes.
The NIH award will explore how damage to mitochondria affects bioenergetic function and organ function, leading to disease severity and failure. The study aims to better understand mitochondria mutations and develop new therapies for patients with mitochondrial disorders.
Mitochondria are the 'powerplants' of cells that convert nutrients into fuel, but they also build fatty acids, a process that links nutrient sources to energy production. This award will enable Dr. Sara Nowinski to study this phenomenon and its impact on health and disease.
Researchers isolated the primary disease-causing component of muscular dystrophy to the mitochondrial permeability pore and found that preventing its function stops disease progression. A potential treatment strategy involves targeting the mitochondrial pore with a nontoxic inhibitor, which could provide benefits independently or in co...
Researchers at Scripps Research have identified a unique mitochondrial protein structure, DELE1, that plays a crucial role in activating the cell's integrated stress response. This discovery could lead to the development of new therapies for age-related diseases such as neurodegeneration and cancer.
Researchers at CU Anschutz Medical Campus identify fructose as a central conduit to obesity and diseases. Fructose works differently than other nutrients by lowering active energy, stimulating food intake and leading to weight gain.
Molecular biologists Ruslan Afasizhev and Inna Afasizheva have discovered the architecture of molecular machines involved in RNA editing in a disease-causing parasite. This understanding could potentially help treat African sleeping sickness, which is usually fatal and has limited treatment options.
The research discovered that T cells are especially sensitive to genetic disturbances in their mitochondrial power plants. Different types of T cells show varying degrees of tolerance to defects in the mitochondrial genome, with memory CD8+ T cells rarely affected.
A novel assay system has been developed to validate ECHS1 gene variants, enabling rapid diagnosis of mitochondrial diseases. The assay quickly pinpointed a new synonymous substitution causing a splicing abnormality in ECHS1 variants, providing a robust platform for variant interpretation.
Researchers at the Lewis Katz School of Medicine found that calcium sensor MICU1 regulates mitochondrial ultrastructure, governing inner and outer mitochondrial membrane structure. This discovery provides a framework for understanding cellular energetics and cell death, with implications for diseases such as cardiovascular disease.
A new paper by Robert K. Naviaux outlines the array of processes that drive healing and whose dysfunction underlies chronic illnesses like diabetes and autism. The cell danger response is triggered by exposure to threats, but persists even after the threat is gone, causing inflammation and cell dysfunction.
A Finnish mitochondrial disease, GRACILE syndrome, exhibits cancer-like changes in cell proliferation, leading to premature ageing. Researchers have identified the c-MYC protein as a key player in this process, and a ketogenic diet has shown promise in reducing excessive cell growth.
Researchers at Temple University Health System found that carbonic anhydrase inhibitors reduce inflammation, restore cell function and prevent cognitive impairment in mice with amyloid buildup. CAIs also improved cerebrovascular health and enhanced amyloid-clearing capacity.
A study published in Neurobiology of Disease suggests that targeting the sigma-1 receptor and ATAD3A protein may prevent mitochondrial dysfunction in ALS. The researchers found that this approach could lead to a novel therapeutic strategy for neurodegenerative diseases.
Researchers uncover the critical link between cellular energy levels and mitochondrial damage through protein FNIP1. The study reveals that FNIP1 enables communication between AMPK and TFEB, instructing genes to remove damaged mitochondria and create new ones.
Researchers have developed a new technology to sequence individual mitochondria in single cells, allowing for unbiased analysis of full-length mtDNA. This has revealed complex patterns of pathogenic mtDNA mutations and the potential risks of off-target mutations in genetic editing strategies.
Glaucoma researchers identify mitochondria as a key source of energy for optic nerve cells, and restoring balance can protect these cells from damage. The study suggests enhancing mitochondrial biogenesis may be a promising treatment strategy.
Researchers have identified mitochondrial signaling pathways as critical organelles that promote tumorigenesis and metastasis. In particular, the integrated stress response is found to engage with mitochondria to drive tumor growth, highlighting a new paradigm for understanding aggressive prostate cancer progression.
Researchers used AI to analyze literature describing compounds that enhance mitophagy, a process damaged in Parkinson's disease. Probucol, a cholesterol-lowering drug, was identified as the most effective compound with improved motor function and neuron loss in animal models.
Researchers found that gene therapy approach and small molecule treatment can calm the destructive cells of ALS by preserving upper motor neurons. Improving mitochondrial health also reduces astrocyte attack on diseased neurons, offering new hope for treating ALS.
Researchers at Children's Hospital of Philadelphia developed two new zebrafish models for studying SURF1 mitochondrial disease, a major cause of Leigh syndrome. The team identified two drugs, cysteamine bitartrate and N-acetylcysteine, that showed potential in preventing neurological decompensation in patients with Leigh syndrome.
Scientists at Ben-Gurion University have discovered a groundbreaking treatment approach targeting the mitochondrial gatekeeper VDAC1 for Alzheimer's disease. The new therapy, VBIT-4, demonstrates significant improvement in mouse models, preventing cell death and neuroinflammation while promoting healthy neuron growth.
Researchers create advanced imaging-based method for studying mitochondria, enabling detailed mapping and measurement of structural changes. This technique has potential applications in understanding diseases such as Alzheimer’s, Parkinson’s, and cancers where mitochondrial function is disrupted.
Salk scientists discovered that when telomeres become very short, they communicate with mitochondria, triggering an inflammatory response. This process destroys cells that could become cancerous, preventing cancer formation. The findings highlight the importance of studying interactions between telomeres, mitochondria, and inflammation.
Researchers found that blocking mitochondria fusion or fission triggers an inflammatory process, leading to muscular atrophy. This 'sterile inflammation' is not linked to infectious processes and has physiological relevance in mice with mitochondrial fragmentation.
Researchers found that cells with impaired mitochondria double their energy expenditure, degrading telomeres and activating stress responses. Hypermetabolic state accelerates biological aging, explaining fatigue and exercise intolerance in patients with mitochondrial diseases.
UC San Diego researchers analyzed plankton samples from the Continuous Plankton Recorder Survey to reconstruct historical marine pollution trends. They found rising levels of manmade chemicals in oceans, which may be used to monitor ecosystem health and study connections between ocean pollution and human chronic illnesses.
Researchers genetically engineered mitochondria to convert light energy into chemical energy, increasing ATP production and lifespan by 30-40%. The study provides new insights into mitochondrial function and offers a platform for studying age-related diseases.
Researchers discovered that krill oil protects dopaminergic neurons from age-related degeneration through temporal transcriptome rewiring and suppression of several hallmarks of aging. Krill oil increases neuronal resilience, promoting anti-oxidative stress and anti-inflammation, and abrogating multiple aging hallmarks.
ATAD3A is crucial for the movement of genetic material inside mitochondria, affecting energy production. The correct distribution of mtDNA nucleoids activates expression of respiratory chain complexes.
Scientists have discovered how cells eliminate mutated mitochondrial DNA (mtDNA) using autophagy, a cellular waste disposal process. This mechanism prevents mitochondrial damage and preserves function.
A new study by UCL researchers found that tailoring whole genome sequencing analysis to individual patients can double the diagnostic rates of rare diseases. The personalised approach increased the diagnostic rate from 16.7% to 31.4%, detecting potential disease-causing variants in a further 3.9% of patients.