Alpers, Mitochondria and Metabolism
- Medicinal oil reduces debilitating epileptic seizures associated with Glut 1 deficiency, trial shows (8/11/2014) – For the trial participants who suffer from the disease called Glut1 deficiency (G1D), seizure frequency declined significantly. Most showed a rapid increase in brain metabolism and improved neuropsychological performance, findings that suggested the oil derived from castor beans called triheptanoin, ameliorated the brain glucose-depletion associated with this genetic disorder, which is often undiagnosed.
- Breakthrough DNA Study Opens Door to New Treatments for Mitochondrial Diseases (8/8/2013) – Please read the last sentence. Could this be a key to POLG mutations and “healthy” mtDNA replication? A groundbreaking cellular genetics study led by Carlos T. Moraes, Ph.D., professor of neurology and cell biology, opens the door to potential new treatments for mitochondrial diseases that affect the nerves, muscles and vital organs. In the new study, published in the August 4 edition of Nature Medicine, Moraes outlines how the research team was able to eliminate a mutant form of mitochondrial DNA in the cells of two patients with hereditary genetic disorders. Found throughout the human body, except in red blood cells, mitochondria are energy-producing organelles that convert food molecules into the chemical energy currency that cells use to power their functions. “Many patients with mitochondrial diseases have both normal and mutated mitochondrial DNA (mtDNA),” said Moraes. “We found a way to destroy the mutated one without affecting the normal mtDNA.”
- Hypothermia for pediatric refractory status epilepticus (8/1/2013) – Refractory status epilepticus (RSE) is often a major first symptom of Alpers Syndrome. Sadly, onset of RSE is a precursor of things to come. According to the research, “this is the largest pediatric case series reporting treatment of RSE with mild hypothermia. Hypothermia decreased seizure burden during and after pediatric RSE and may prevent RSE relapse.” This recent research using hypothermia (core body cooling) to control RSE has proven effective. Could it be used in Alpers cases to perhaps control RSE?
- Genome Research Benefits Growing and Getting Cheaper (6/16/2013) – “Ten years ago it would’ve taken a factory full of machines the size of fridge-freezers costing millions of dollars. Now you’re talking about doing DNA sequencing on a chip,” Life Technologies President Peter Silvester told CNBC’s “Squawk Box Europe,” showing one little bigger than a Scrabble tile. “The cost is coming down dramatically, and our goal is really to democratize sequencing.”
- Targeted Exome Sequencing of Suspected Mitochondrial Disorders (4/17/2013) – If a patient presents with something that could possibly be mito-related all the known possibilities may be checked at once, very cost and time-effective.
- Phase III Trial of Coenzyme Q10 in Mitochondrial Disease (9/1/2012) – Very promising for Alpers kids, the central hypothesis is that oral CoQ10 is a safe and effective treatment for children with inborn errors of mitochondrial energy metabolism due to defects in specific respiratory chain (RC) complexes or mitochondrial DNA (mtDNA) mutations, and that this beneficial action is reflected in improved motor and neurobehavioral function and in quality of life.
- DNA Blueprint for Fetus Built Using Tests of Parents (6/6/2012)
- Avocado oil protects against free radicals in mitochondria (4/23/2012)
Many studies of antioxidants in vegetables and fruits, such as carrots and tomatoes, have been completed with few encouraging results, says Christian Cortes-Rojo, a researcher at Universidad Michoacana de San Nicolas de Hidalgo in Morelia, Michoacan, Mexico. “The problem is that the antioxidants in those substances are unable to enter mitochondria. So free radicals go on damaging mitochondria, causing energy production to stop and the cell to collapse and die. An analogy would be that, during an oil spill, if we cleaned only the spilled oil instead of fixing the perforation where oil is escaping, then the oil would go on spilling, and fish would die anyway.” Cortes-Rojo revealed the first research results showing the protective effects of avocado oil against free radicals in mitochondria, presenting his group’s work at the annual meeting of the American Society for Biochemistry and Molecular Biology, held in conjunction with the Experimental Biology 2012 conference in San Diego.
- Stem Cell Scientists Discover a Way to Correct Mutations in Human Mitochondria by RNA Targeting (3/12/2012)
- Cost of Gene Sequencing Falls, Raising Hopes for Medical Advances (3/7/2012)
- Berlin to host the most important meeting on mitochondria: Mitochondria Engineering (2/20/2012)
- Oxford Strikes First in DNA Sequencing Nanopore Wars (2/17/2012)
- CLARITY Challenge on Genomic Data (1/26/2012)
- MitoExome sequencing highlights promise, challenges of genetic diagnostics (1/25/2012)
- Expansion of genome research will benefit two Boston-area research centers (12/6/2011)
- Genomics draws closer to the clinic (9/8/2010)
- FDA Grants EPI-743 for patients diagnosed with inherited respiratory chain diseases of the mitochondria (6/8/2011)
- Mitochondrial mapmakers
- Targeting Mitochondria is a special interest group/conference that is doing some exciting research in mitochondrial diseases
- Friday, January 1, 2021Alpers-Huttenlocher Syndrome
2020 Dec 26. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021 Jan–.ABSTRACTAlpers-Huttenlocher syndrome (AHS) is an autosomal recessive disease caused by a mutation in the …
- Thursday, June 27, 2019Biophysical characterization Of Alpers encephalopathy associated mutants of human mitochondrial phenylalanyl-tRNA synthetase
IUBMB Life. 2019 Aug;71(8):1141-1149. doi: 10.1002/iub.2114. Epub 2019 Jun 26.ABSTRACTMutations in nucleus-encoded mitochondrial aminoacyl-tRNA synthetases (mitaaRSs) lead to defects in mitochondrial …
- Tuesday, August 14, 2018Specific EEG markers in POLG1 Alpers' syndrome
Clin Neurophysiol. 2018 Oct;129(10):2127-2131. doi: 10.1016/j.clinph.2018.07.016. Epub 2018 Aug 4.ABSTRACTOBJECTIVE: To examine whether rhythmic high-amplitude delta with superimposed (poly)spikes (RH …
- Thursday, July 19, 2018Dissecting the neuronal vulnerability underpinning Alpers' syndrome: a clinical and neuropathological study
Brain Pathol. 2019 Jan;29(1):97-113. doi: 10.1111/bpa.12640. Epub 2018 Oct 9.ABSTRACTAlpers’ syndrome is an early-onset neurodegenerative disorder often caused by biallelic pathogenic variants in the …
- Tuesday, January 23, 2018Case 250: Alpers-Huttenlocher Syndrome
Radiology. 2018 Feb;286(2):720-725. doi: 10.1148/radiol.2017151748.ABSTRACTHistory A 10-year-old girl with global developmental delay and attention deficit hyperactivity disorder was transferred from …
- Saturday, January 6, 2018Alpers-Huttenlocher Syndrome First Presented with Hepatic Failure: Can Liver Transplantation Be Considered as Treatment Option?
Pediatr Gastroenterol Hepatol Nutr. 2017 Dec;20(4):259-262. doi: 10.5223/pghn.2017.20.4.259. Epub 2017 Dec 22.ABSTRACTMitochondria play essential role in eukaryotic cells including in the oxidative ph …
News from Miracles for Mito
News from United Mitochondrial Disease Foundation
News from Targeting Mitochondria
- Friday, July 23, 2021Dysregulation of Mitochondria-Lysosome Contacts by GBA1 Dysfunction in Dopaminergic Neuronal Models of Parkinson’s Disease
Dr. Dimitri Krainc, from the Northwestern University Feinberg School of Medicine, Chicago in USA will be will be joining the Targeting Mitochondria 2021 Congress and will demonstrate his study regardi …
- Thursday, July 22, 2021Introduction Remarks: Past, Present and Future
Dr. Egbert Mik, from University Medical Center Rotterdam, The Netherlands, will join the 12th Targeting Mitochondria Congress in October 2021, to give a talk entitled “Introduction Remarks: Past, Pres …
- Monday, July 5, 2021The Mitochondria Connection between Stress and Turn hair Gray
Dr. Martin Picard, Associate professor of behavioral medicine at Columbia University Vagelos College of Physicians and Surgeons, USA will be joining the Targeting Mitochondria 2021 Congress and give a …
- Friday, June 25, 2021Optimization of Energy Homeostasis in Old Age by SIRT6
Prof. Haim Cohen, head of the Molecular Mechanism of Aging Laboratory at Bar-Ilan University, Israel will be joining the Targeting Mitochondria 2021 Congress and give a presentation entitled “Optimiza …
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