Articles tagged with Mitochondrial Diseases
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A new treatment called MA-5 has been developed to target mitochondrial diseases, a rare and intractable condition with severe symptoms like neurological disorders and organ damage. The Phase II clinical trial is expected to slow the progression of the disease and improve hearing loss, a common complication.
Researchers have discovered that a mitochondrial mutation can remodel immune cell function and inflammatory signalling, leading to whole-body issues in animal models. This finding offers a plausible hypothesis for why individuals with these disorders often experience problems with multiple organs and repeated infections.
Researchers have uncovered a novel mechanism linking lactate metabolism to muscle Growth differentiation factor 15 (GDF15) release during mitochondrial stress, providing a potential therapeutic target for mitochondrial myopathy. Elevated lactate production and histone lactylation activate GDF15 gene expression.
Researchers have identified a cellular mechanism that transmits mitochondrial DNA mutations, which can cause serious and incurable diseases. A potential treatment is proposed to target the enzyme USP30, reducing the risk of mitochondrial disease transmission.
Researchers have identified a new therapeutic target, ABHD18, which can restore mitochondrial health and improve heart function in preclinical models of Barth syndrome. By blocking this gene, the body can bypass the problem caused by the faulty TAFAZZIN gene, offering a potential path to targeted therapies.
Researchers from Japan studied DJ-1's catalytic mechanism, revealing key amino acids involved in cPGA hydrolysis. Mutations in these residues revoked cPGA hydrolase activity, confirming the pathophysiological implications of DJ-1.
Researchers at Newcastle University report eight babies born with no signs of mitochondrial DNA disease using pronuclear transfer, a new IVF technique reducing disease transmission. The study indicates the treatment is effective in reducing the risk of otherwise incurable diseases.
A recent biochemical discovery has led to a potential treatment for HPDL deficiency, a rare disease that causes paralysis. Researchers treated an 8-year-old boy with an experimental compound that partially reversed his rapid decline, allowing him to walk long distances again and even run.
Estrogen-related receptors play a crucial role in regulating muscle cell metabolism and energy production. Researchers discovered that these receptors can increase mitochondrial numbers and enhance energetic output when muscles need more energy, making them a promising therapeutic target for metabolic disorders.
Researchers develop specialized enzymes to selectively increase or decrease specific mutation loads in mitochondria, allowing precise study of disease manifestation. This technology holds promise for treating patients with mitochondrial diseases by reducing mutant mtDNA load.
This study found that inhibiting cyclooxygenase-2 reduces liver ferroptosis and fibrosis by upregulating the Nrf2 signaling pathway. COX-2 inhibition also restored antioxidant defenses in hepatocytes, reducing oxidative stress and lipid peroxidation.
The study found that mitochondrial membrane potential (MMP) of CD8+ T cells is a significant predictor of bacterial infection (BI) and acute-on-chronic liver failure (ACLF) in cirrhotic patients. Low MMP levels were associated with increased risk of BI and ACLF.
Researchers at the University of Gothenburg have discovered a molecule that helps more mitochondria function properly, improving energy production in cells from patients with POLG mutations. This breakthrough paves the way for a new treatment strategy and may have broader therapeutic use for other mitochondrial diseases.
A novel mechanism linking fetal anemia to disrupted intracellular iron distribution has been identified due to impaired mitochondrial protein synthesis. Mitochondrial tRNA modification enzyme Mto1 plays a crucial role in efficient protein synthesis and maintaining proper iron homeostasis.
Scientists have discovered a novel regulator of the mitochondrial sodium-calcium exchanger (NCLX), which helps maintain calcium balance in mitochondria. The discovery of TMEM65 could lead to new therapeutic agents to combat calcium overload associated with heart failure and Alzheimer's disease.
Researchers investigated the mechanisms underlying sexual dimorphism in cystinuria and found that mitochondrial Slc3a1 enhances mitochondrial functions by increasing NAD+ uptake. This suggests that restoring mitochondria in renal tubules may improve symptoms, leading to reduced cell death and fibro-inflammation.
This study found that aging impacts the gut microbiome composition and metabolites differently in male and female rats, influenced by biological sex and mitochondrial DNA. The researchers analyzed fecal samples from genetically diverse rats to assess bacterial changes with age, revealing more significant shifts in females.
Researchers at the WEHI have made a major breakthrough in understanding Parkinson's disease by determining the first ever structure of human PINK1 bound to mitochondria. This discovery paves the way for the development of new drugs to treat the condition, which currently has no cure or drug to stop its progression.
Researchers found that individuals with lower acylcarnitine levels declined more slowly and showed fewer cognitive decline symptoms compared to those with high acylcarnitine levels. Healthy lifestyle interventions, such as a plant-based diet and exercise, may help lower bioenergetic age and potentially delay or prevent Alzheimer’s onset.
A study by Juntendo University researchers found that TEFM is crucial for mtDNA replication regulation, particularly at the heavy-strand origin. The team's genome-edited TEFM knockout revealed a notable reduction in mtDNA copy number and strand-asynchronous replication intermediates.
This study reveals TFE3 activation facilitates clearance of alpha-synuclein aggregates and restores mitochondrial function in Parkinson's disease. By enhancing autophagy, TFE3 promotes breakdown of harmful protein aggregates, reducing neurotoxic effects.
SLC transporters contribute to the development of hepatic steatosis by regulating lipid metabolism, particularly with SLC2A2, GLUT4, and GLUT5. These proteins influence processes like de novo lipogenesis and insulin resistance in hepatocytes.
Researchers from Yale University and Altos Labs have identified age-invariant genes that stay the same across all tissues during aging. These genes are linked to essential cellular functions, challenging the common belief that gene dysregulation drives aging.
Sylvester's Firefighter Cancer Initiative reduces cancer risk among firefighters and community members by addressing electric vehicle fires. A new gene-editing study aims to treat mitochondrial diseases, while a program connects patients with pathologists to improve understanding of complex results.
A retrospective natural history study of 30 patients with single large-scale mitochondrial DNA deletion syndromes (SLSMD) reveals a broader clinical presentation than previously thought. The study identifies key molecular details, including a recurrent deleted region in the MT-ND5 gene and elevated levels of biomarker GDF-15.
Researchers at Gladstone Institutes developed a drug called HypoxyStat that mimics the effects of breathing low oxygen, extending lifespan by over three times in mice with Leigh Syndrome. The drug reversed brain damage, muscle weakness, and other symptoms of the disease, even when given late in life.
Researchers have discovered Mitofusin 2's unexpected function in maintaining protein quality within cells, interacting with the proteasome and chaperones to prevent toxic aggregates. This novel connection has far-reaching implications for treating CMT and other neurodegenerative diseases.
A new study from NUS Medicine has found that the protein Spns1 plays a key role in recycling fats out of cell compartments called lysosomes, preventing diseases like lysosomal storage disorders. The research uses cryoelectron microscopy to understand how Spns1 transports fats and highlights its importance for cellular health.
Researchers found that damaged mitochondria send signals to the nucleus, changing cell fate and causing β-cells to become immature and stop producing insulin. Damage was also observed in human pancreatic islet cells, suggesting potential for treatment using a drug called ISRIB.
Researchers at FAU's Schmidt College of Medicine will explore the use of genetically engineered cells to treat degenerative diseases, with a focus on understanding how hypoxic conditions drive cellular transformation. The study aims to identify novel pathways controlling this process and develop strategies for engineering more complex ...
Researchers reveal senescence's impact on liver health, from repair and regeneration to chronic disease progression. Emerging therapies, such as senolytic treatments, aim to selectively eliminate senescent cells while preserving healthy tissue.
Researchers found that biotin supplementation reverses neurotoxicity in human nerve cells, improving mitochondrial function and reducing cell loss. Biotin metabolism was identified as a modifier of manganese-induced neurodegeneration, offering potential therapeutic strategy for Parkinson's disease
Researchers at the University of Bergen have developed mini-brains that can study disease processes caused by mitochondrial failure, potentially leading to new therapies for epilepsy and other brain disorders. The mini-brains offer a realistic model for exploring complex disease processes and testing treatment strategies.
Researchers identified the critical role of TIMM50 protein in mitochondrial energy production and its link to a severe and rare neurological disease. The study's findings suggest potential targets for future drug treatments and advance research on protein import into mitochondria in brain cells.
A genetic key to understanding mitochondrial DNA depletion syndrome has been identified, revealing mechanisms for improved diagnosis and treatment. The research highlights the crucial role of the MICOS10 gene in maintaining mitochondrial structure and function.
A new study identifies a biallelic GGGCC repeat expansion causing NAXE-related mitochondrial encephalopathy in a three-year-old patient. The team found the expansion was due to maternal chromosome 1 uniparental disomy, leading to transcriptional suppression and severe mitochondrial dysfunction.
Global experts and medical professionals gathered in Tashkent to address rare diseases, enhancing patient care. The forum highlighted key findings on diagnosis and treatment of rare genetic disorders in Uzbekistan.
Mitophagy, a recycling process crucial for cellular health, increases and then declines in midlife brain cells, while lysosomes lose acidity with age. The study highlights the importance of developing new perspectives when studying brain aging in longer-lived species.
A collaborative study led by Dr. Julie St-Pierre at the University of Ottawa found that promoting mitochondrial elongation in cancer cells hobbles their ability to metastasize. The research team identified a common signature that could help determine which pathways lead to decreased metastasis.
A national study found that genomic sequencing can diagnose mitochondrial disease in over half of patients, simplifying the diagnostic journey and sparing invasive testing. The study also identified factors that impact testing results, particularly among children.
Researchers at TUM found that mitochondrial dysfunction in mice leads to chronic intestinal inflammation and changes in the gut microbiome. The study suggests potential new treatments targeting mitochondrial pathways or addressing the connections between the microbiome and mitochondria.
A new University of Colorado Boulder study sheds light on why paternal mitochondrial DNA is eliminated during development. The research found that delaying this process can lead to lasting neurological and behavioral problems in adults. Treatments such as Vitamin K2 may offer new hope for preventing or treating these disorders.
A study from University of California San Diego reveals a direct association between inherited genetic variants in mitochondrial DNA and the severity of Gulf War illness. The findings support an emerging hypothesis that GWI is driven by mitochondrial dysfunction rather than inflammation.
Researchers at Texas A&M University have developed a method to recharge cellular mitochondria using nanotechnology, potentially extending healthy lifespans and improving outcomes for patients with age-related diseases. The molybdenum disulfide nanoparticles stimulate mitochondrial regeneration, helping cells generate more energy.
Researchers at the CNIC found that respiratory complex I possesses sodium transport activity essential for efficient cellular energy production. This discovery provides a molecular explanation for Leber's hereditary optic neuropathy and may have implications for other neurodegenerative diseases.
Researchers at the UAB Institut de Neurociències found that daily cannabidiol administration extends lifespan and improves symptoms in animal models of Leigh syndrome. CBD also improves cellular function, neuropathology, and breathing abnormalities, with a promising treatment option for this severe disease.
University of Queensland researchers identified two enzymes that regulate adenine methylation in mitochondrial DNA, which controls disease-causing mutations. Enhancing levels of this modification may slow disease progression and provide a new perspective on genetic and epigenetic factors in health and disease.
A recent study published in Cell Metabolism reveals a critical link between defects in the urea cycle and the development of fatty liver disease. The researchers found that these defects lead to secondary impairment in energy metabolism, resulting in excessive fat storage and inflammation in the liver.
Parents who struggle with alcohol use disorders can pass along symptoms of early aging to their children, affecting them well into adulthood. These accelerated aging effects include high cholesterol, heart problems, arthritis, and early onset dementia.
A team of researchers has developed a comprehensive ranking of genes and proteins involved in Alzheimer's disease, providing a roadmap for more targeted research and drug discovery. The study integrates findings from multiple fields and identifies thousands of potential therapeutic targets.
Pagliarini's research aims to shed light on the underlying genetic causes of mitochondrial disorders, which affect one in 5,000 people. He will use this funding to expand his work on mitochondrial proteins and their functions, with a focus on coenzyme Q.
A new study presents GeneMAP, a platform that maps metabolic gene functions more precisely, identifying key gene-metabolite associations at the heart of mitochondrial metabolism. The tool has already pinpointed one promising association with SLC25A48 and its role in transporting the essential metabolite choline.
Two proteins, NAP1 and SINTBAD, have been discovered as regulators of mitophagy in cells. This discovery opens a new area of focus for researchers targeting drug therapies to boost mitophagy activity and promote mitochondrial and neuronal health.
Researchers found increased liver oxidative stress and impaired antioxidant defenses in a DS murine model. The study suggests potential therapeutic strategies targeting oxidative stress and lipid metabolism to prevent or mitigate liver-related complications.
Researchers discovered extreme differences in mitochondrial gene activity between males and females, highlighting the need for sex-specific disease therapies. The study, published in the Proceedings of the National Academy of Sciences, found that male mitochondria exhibit more protein-coding genes than females.
Researchers have developed a model to enrich sub-populations of cancer cells with high basal levels of mitophagy, promoting CSC features such as self-renewal, proliferation, and drug-resistance. This study highlights the importance of BNIP3/BNIP3L in maintaining cancer stem cell properties.
A new review paper explores the mechanistic links between peripheral vascular dysfunction, cerebral vascular dysfunction, and reduced brain health with aging. The study suggests that targeting fundamental aging mechanisms may be a promising strategy to reduce dementia risk.
The CCR4-NOT complex plays a crucial role in regulating RNA metabolism and stress response in C. elegans, compromising stress resistance and decreasing lifespan when depleted of subunits. This study highlights an important new role for the CCR4-NOT complex in normal aging and longevity.
A new study from deCODE genetics analyzed 64,806 Icelanders to understand the rate and nature of mitochondrial DNA mutations and their maternal transmission. The research documents hypermutability at some positions in mtDNA, including the A>G mutation, which occurs frequently but typically disappears after several generations.
Researchers evaluated anemia cases using stringent clinical and laboratory criteria, identifying rare congenital sideroblastic anemias and nonsideroblastic iron defects with pathogenic gene mutations. This study highlights the importance of active screening and awareness for these conditions in the Indian subcontinent.