Applications in Mitochondrial Diseases

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...

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• 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...

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• 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...

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Publications

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• 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.

• 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.

• 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; 2012 Feb 9. 119 (6):1490-500.

• Mitochondrial Stress Engages E2F1 Apoptotic Signaling to Cause Deafness

  Raimundo N, Song L, Shutt T E, McKay S E, Cotney J, Guan M X, Gilliland T C, Hohuan D, Santos-Sacchi J and Shadel G S

  Cell; 2012 Feb 17. 148 (4):716-726.

• 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 Mar 1. 12 (2):328-35.

• Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing

  Haack T B, Haberberger B, Frisch E M, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr J A, Herberg U, Hennermann J B, Klopstock T, Kuhn K A, Ahting U, Sperl W, Wilichowski E, Hoffmann G F, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom T M, Schuelke M, Freisinger P, Meitinger T and Prokisch H

  J Med Genet; 2012 Apr 1. 49 (4):277-283.

• Estrogen Prevents Oxidative Damage to the Mitochondria in Friedreich's Ataxia Skin Fibroblasts

  Richardson T E, Yu A E, Wen Y, Yang S-H and Simpkins J W

  PLoS One; 2012 Apr 3. 7 (4):e34600.

• Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations

  Steenweg M E, Ghezzi D, Haack T, Abbink T E, Martinelli D, van Berkel C G, Bley A, Diogo L, Grillo E, Te Water Naude J, Strom T M, Bertini E, Prokisch H, van der Knaap M S and Zeviani M

  Brain; 2012 May 1. 135 (Pt 5):1387-94.

• Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis

  Ghezzi D, Baruffini E, Haack T B, Invernizzi F, Melchionda L, Dallabona C, Strom T M, Parini R, Burlina A B, Meitinger T, Prokisch H, Ferrero I and Zeviani M

  Am J Hum Genet; 2012 Jun 8. 90 (6):1079-87.

• Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease

  Indrieri A, van Rahden V A, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Zvulunov A, Kutsche K, Zeviani M and Franco B

  Am J Hum Genet; 2012 Nov 2. 91 (5):942-949.

• Mouse mtDNA mutant model of Leber hereditary optic neuropathy

  Lin C S, Sharpley M S, Fan W, Waymire K G, Sadun A A, Carelli V, Ross-Cisneros F N, Baciu P, Sung E, McManus M J, Pan B X, Gil D W, Macgregor G R and Wallace D C

  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

  Haack T B, Rolinski B, Haberberger B, Zimmermann F, Schum J, Strecker V, Graf E, Athing U, Hoppen T, Wittig I, Sperl W, Freisinger P, Mayr J A, Strom T M, Meitinger T and Prokisch H

  J Inherit Metab Dis; 2013 Jan 1. 36 (1):55-62.

• Induced Pluripotent Stem Cells with a Pathological Mitochondrial DNA Deletion

  Cherry A B, Gagne K E, McLoughlin E M, Baccei A, Gorman B, Hartung O, Miller J D, Zhang J, Zon R L, Ince T A, Neufeld E J, Lerou P H, Fleming M D, Daley G Q and Agarwal S

  Stem Cells. 2013 Feb 8; [Epub ahead of print].

Technical Posters

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• Succinyl-CoA Ligase Deficiency in the Mouse is a Model for Mitochondrial Disease with mtDNA Depletion

  T.R. Donti, M. Ge, K. Eldin, and B.H. Graham

  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

  Yu-Ting Wu a, Hsin-Chen Leeb, and Yau-Huei Wei

  9th Conference of the Asian Society of Mitochondrial Research and Medicine (ASMRM)
  November 2-5, 2012
  Beijing, CN

• Mitophagy mediated by Rheb and the maintenance of mitochondrial activity

  Su Melser, Etienne Hebert Chatelain, Julie Lavie, Emilie Giraud, Caroline Jose , Rodrigue Rossignol and Giovanni Barnard

  European Bioenergetic Conference (EBEC 2012)
  September 15-20, 2012
  Freiberg, DE

• Glutaredoxin-2 and glutathionylation in the regulation of mitochondrial energetics in mice

  Ryan J. Mailloux, Jian Xuan, Marjorie Lou, and Mary-Ellen Harper

  The FEBS Workshop and MiP Summer School
  July 7-13, 2012
  Cambridge, UK

• Bioenergetics-based profiling detects a mitochondrial BCL-2-dependent primed for death state in cells

  Pascaline Clerc, Gregory B. Carey, Michael Wei, Hyehyun Hwang, Geoffrey D. Girnun, Hegang Chen, Stuart S. Martin, and Brian M. Polster

  Mitochondria and Metabolism
  June 12-14, 2012
  Philadelphia, PA

• Bioenergetics evaluation of intact & permeabilized human skin fibroblasts with mitochondrial disorders using the Seahorse XF96

  Federica Invernizzi, Per Bo Jensen, May Sanderhoff, Ajit Divakurani, Anne Murphy, George Rogers, Ilaria D'Amato, Valeria Tiranti, and Massimo Zeviani

  European Society for Clinical Investigation
  March 22-24, 2012
  Budapest, HU

• 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, US

Webinars

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• 

  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

• 

  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

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