Applications in Mitochondrial Diseases

Expand All | Collapse All

App Notes & Tech Briefs

Functional validation of Genomic and Proteomic data

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
Bioenergetic Analysis of Primary Neuronal Deficiencies

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
Assessing mitochondrial dysfunction in primary cardiomyocytes

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

Publications

Sort by: Title | Author | Date

Mechanisms underlying metabolic and neural defects in zebrafish and human multiple acyl-CoA dehydrogenase deficiency (MADD)
Song Y, Selak M A, Watson C T, Coutts C, Scherer P C, Panzer J A, Gibbs S, Scott M O, Willer G, Gregg R G, Ali D W, Bennett M J and Balice-Gordon R J
PLoS One; 2009 Dec 17. 4 (12):e8329.
Mitochondrial and nuclear genomic responses to loss of LRPPRC expression
Gohil V M, Nilsson R, Belcher-Timme C A, Luo B, Root D E and Mootha V K
J Biol Chem; 2010 Apr 30. 285 (18):13742-13747.
Mitochondrial bioenergetics and dynamics interplay in complex I-deficient fibroblasts
Moran M, Rivera H, Sanchez-Arago M, Blazquez A, Merinero B, Ugalde C, Arenas J, Cuezva J M and Martin M A
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
Ghezzi D, Arzuffi P, Zordan M, Da Re C, Lamperti C, Benna C, D'Adamo P, Diodato D, Costa R, Mariotti C, Uziel G, Smiderle C and Zeviani M
Nat Genet; 2011 Mar 1. 43 (3):259-263.
Mutation in the mitochondrial tRNAVal causes mitochondrial encephalopathy, lactic acidosis and stroke-like episodes
Glatz C, D'Aco K, Smith S and Sondheimer N
Mitochondrion; 2011 Jul 1. 11 (4):615-619.
Human iPSCs Harbor Homoplasmic and Heteroplasmic Mitochondrial DNA Mutations While Maintaining hESC-Like Metabolic Reprogramming
Prigione A, Lichtner B, Kuhl H, Struys E A, Wamelink M, Lehrach H, Ralser M, Timmermann B and Adjaye J
Stem Cells; 2011 Sep 1. 29 (9):1338-1348.
The effects of idebenone on mitochondrial bioenergetics
Giorgio V, Petronilli V, Ghelli A, Carelli V, Rugolo M, Lenaz G and Bernardi P
Biochimica et Biophysica Acta (BBA) - Bioenergetics; 2011 Nov 4.
Mitochondrial dysfunction in ataxia telangiectasia
Valentin-Vega Y A, Maclean K H, Tait-Mulder J, Milasta S, Steeves M, Dorsey F C, Cleveland J L, Green D R and Kastan M B
Blood. 2011 Dec 5; [Epub ahead of print].
Partial tandem duplication of mtDNA-tRNA(Phe) impairs mtDNA translation in late-onset mitochondrial myopathy
Arzuffi P, Lamperti C, Fernandez-Vizarra E, Tonin P, Morandi L and Zeviani M
Neuromuscul Disord; 2012 Jan 1. 22 (1):50-55.
Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells
Invernizzi F, D'Amato I, Jensen P B, Ravaglia S, Zeviani M and Tiranti V
Mitochondrion. 2012 Jan 28; [Epub ahead of print].

Technical Posters

Sort by: Title | Author | Date

Bioenergetics evaluation in mitochondrial disorders with the Seahorse XF96
F. Invernizzi, I. D'Amato, P.B. Jensen, V. Tiranti and M. Zeviani
Eighth European Meeting on Mitochondrial Pathology (EuroMIT8)
June 20-23, 2011
Zaragoza, Spain
Role of Amyloid Beta in Mitochondrial Function and Dynamics in Skeletal Muscle
Elika Shabrokh, Mattew Hulver, Madlyn Frisard
Experimental Biology 2011
April 9-13, 2011
Washington, DC

Webinars

Sort by: Title | Speaker | Date

Bioenergetic Evaluation in Mitochondrial Disorders
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
Human Disorders of Bioenergetics
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.