Applications in Mitochondrial Diseases
App Notes & Tech Briefs
A platform to validate proteins and pathways that alter mitochondrial function
Comparative genomic and proteomic analyses have identified approximately half of the estimated 1500 mitochondrial proteins encoded by the human nuclear genome. In recently published studies, XF assays have extended these estimates via the identification of functional roles of some of the nuclear and mtDNA-encoded proteins, and in one case, clarifying assumptions about their activity that had been based on sequence homology data...Learn More
Sensitive assay to measure mitochondrial dysfunction characteristic of Parkinson's, Huntington's and other neurodegenerative diseases
Mitochondria play central roles in meeting the demands of neuronal synapses for energy (ATP). Mitochondrial dysfunction results in impaired neuroplasticity, neuronal degeneration and cell death, and is now recognized as a key element in neurodegenerative diseases...Learn More
Mitochondrial reserve capacity is a sensitive measure of cellular stress
This Application Note describes a method for profiling mitochondrial function in cells responding to stress. The mitochondrial profile generated in this way provides four parameters of mitochondrial function that can be measured in one experiment...Learn More
Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD)
PLoS One; 2009 Dec 17. 4 (12):e8329.
J Biol Chem; 2010 Apr 30. 285 (18):13742-13747.
Biochim Biophys Acta; 2010 May 1. 1802 (5):443-453.
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies
Nat Genet; 2011 Mar 1. 43 (3):259-263.
Mutation in the mitochondrial tRNAVal causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes
Mitochondrion; 2011 Jul 1. 11 (4):615-619.
Human iPSCs Harbor Homoplasmic and Heteroplasmic Mitochondrial DNA Mutations While Maintaining hESC-Like Metabolic Reprogramming
Stem Cells; 2011 Sep 1. 29 (9):1338-1348.
Biochimica et Biophysica Acta (BBA) - Bioenergetics; 2011 Nov 4.
Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy
Neuromuscul Disord; 2012 Jan 1. 22 (1):50-55.
Blood; 2012 Feb 9. 119 (6):1490-500.
Cell; 2012 Feb 17. 148 (4):716-726.
Mitochondrion; 2012 Mar 1. 12 (2):328-35.
J Med Genet; 2012 Apr 1. 49 (4):277-283.
PLoS One; 2012 Apr 3. 7 (4):e34600.
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations
Brain; 2012 May 1. 135 (Pt 5):1387-94.
Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis
Am J Hum Genet; 2012 Jun 8. 90 (6):1079-87.
Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease
Am J Hum Genet; 2012 Nov 2. 91 (5):942-949.
Proc Natl Acad Sci U S A; 2012 Dec 4. 109 (49):20065-70.
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings
J Inherit Metab Dis; 2013 Jan 1. 36 (1):55-62.
Stem Cells. 2013 Feb 8; [Epub ahead of print].
Succinyl-CoA Ligase Deficiency in the Mouse is a Model for Mitochondrial Disease with mtDNA Depletion
American Society of Human Genetics
November 6-10, 2012
San Francisco, CA
Regulation of Mitochondrial FoF1ATPase Activity by Sirt3-catalyzed Deacetylation and Its Deficiency-elicited by oxidative stress in Human Cells Harboring 4977 bp Deletion of Mitochondrial DNA
9th Conference of the Asian Society of Mitochondrial Research and Medicine (ASMRM)
November 2-5, 2012
European Bioenergetic Conference (EBEC 2012)
September 15-20, 2012
Glutaredoxin-2 and glutathionylation in the regulation of mitochondrial energetics in mice
The FEBS Workshop and MiP Summer School
July 7-13, 2012
Bioenergetics-based profiling detects a mitochondrial BCL-2-dependent primed for death state in cells
Mitochondria and Metabolism
June 12-14, 2012
Bioenergetics evaluation of intact & permeabilized human skin fibroblasts with mitochondrial disorders using the Seahorse XF96
European Society for Clinical Investigation
March 22-24, 2012
Eighth European Meeting on Mitochondrial Pathology (EuroMIT8)
June 20-23, 2011
Experimental Biology 2011
April 9-13, 2011
Washington, DC, US
Assessment of metabolic reprogramming of the skin fibroblasts from patients with mitochondrial diseases using the Seahorse XF Analyzer
Yau-Huei Wei, PhD, National Yang-Ming University and Mackay Medical College
Shi-Bei Wu, PhD, National Yang-Ming University
March 13, 2013
Massimo Zeviani, MD, PhD, The Foundation ‘Carlo Besta’ Institute of Neurology
Valeria Tiranti, PhD, The Foundation ‘Carlo Besta’ Institute of Neurology
September 27, 2011
Mitochondrial Bioenergetics in Disease: Toward a Mitochondrial Therapy of Muscular Dystrophies and Beyond
Paolo Bernardi, MD, University of Padova
September 15, 2009
Vamsi Mootha, MD, Harvard Medical School Center for Human Genetics, Massachusetts General Hospital
February 26, 2008
Mitochondrial diseases are often caused by mutations to mitochondrial DNA that affect mitochondria function. Mitochondrial diseases can display unique characteristics because of the way the diseases are inherited, and also because mitochondria are very critical to cell function.
The XF Analyzer generates data that can provide new understanding in relation to mitochondrial diseases and mitochondrial dysfunction, by allowing the measurement of cellular metabolism in real-time, in a microplate. By measuring the oxygen consumption rate (OCR) - a measure of mitochondrial respiration; as well as the extracellular acidification rate (ECAR) - a measure of glycolysis, you will be provided with the most physiologically relevant in vitro measurement for your bioenergetic studies.
- Cell Physiology
- Mitochondrial Diseases
- Model Organisms
- Obesity, Diabetes, & Metabolic Disorders
- Stem Cell Biology
- Toxicology & Hepatobiology
- Translational Medicine
Next Seahorse Webinar
Christian Frezza, PhD,
Hutchison/MRC Research Centre, Cambridge, UK
May 29, 2013
Advanced XF Training
Understanding When and How to Use Intact Cells and Isolated Mitochondria in Investigating Bioenergetics
XFe Extracellular Flux Analyzers
The world's most advanced cell metabolism analyzer.Learn More