CDE Detailed Report
Disease: General (For all diseases)
Sub-Domain: Laboratory Tests and Biospecimens/Biomarkers
CRF: Biomarkers in Mitochondrial Disease
Displaying 1 - 19 of 19
Sub-Domain: Laboratory Tests and Biospecimens/Biomarkers
CRF: Biomarkers in Mitochondrial Disease
Displaying 1 - 19 of 19
| CDE ID | CDE Name | Variable Name | Definition | Short Description | Question Text | Permissible Values | Description | Data Type | Disease Specific Instructions | Disease Specific Reference | Population | Classification (e.g., Core) | Version Number | Version Date | CRF Name (CRF Module / Guideline) | Sub Domain Name | Domain Name | Size | Input Restrictions | Min Value | Max Value | Measurement Type | External Id Loinc | External Id Snomed | External Id caDSR | External Id CDISC |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C19559 | Biomark neutrophils assessment type | BiomarkNeutrAssessTyp | Type of biomark(s) assessed from neutrophils sample | Type of biomark(s) assessed from neutrophils sample | Which biomarker(s) were assessed from the specimen's neutrophils sample? | OXPHOS enzymology;High resolution respirometry;Coenzyme Q10;Intracellular glutathione | OXPHOS enzymology;High resolution respirometry;Coenzyme Q10;Intracellular glutathione | Alphanumeric | Atkuri, K.R., et al., Inherited Disorders Affecting Mitochondrial Function are Associated with Glutathione Deficiency and Hypocitrullinemia. Proc Natl Acad SCI U S A, 2009. 106(10): P. 3941-5. Kramer, P.A., et al., A Review of the Mitochondrial and Glcolytic Metabolism in Human Platelets and Leukocytes: Implications for their Use as Bioenergetic Biomarkers. REdox Biol, 2014. 2: P. 206-210. | Adult;Pediatric | Supplemental | 1.00 | 2014-12-19 10:47:13.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
|||||||||
| C19548 | Biomarker Analysis Indicator | BiomarkAnaInd | Indicator that a biomarker analysis was performed | Indicator that a biomarker analysis was performe | Was a biomarker analysis done? | Yes;No | Biomarker analysis was performed;Biomarker analysis was not perfomed | Alphanumeric |
If yes, please answer questions below: |
Adult;Pediatric | Supplemental | 1.00 | 2014-12-15 14:56:57.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
|||||||||
| C19560 | Biomarker monocyte assessment type | BiomarkMonocAssessTyp | Type of biomark(s) assessed from monocytes samples | Type of biomark(s) assessed from monocytes sample | Which biomarker(s) were assessed from the specimen's monocytes sample? | OXPHOS enzymology;High resolution respirometry;Coenzyme Q10;Intracellular glutathione;Intracellular free glutathione (fGSH), oxidized disulfide (GSSG), fGSH/GSSG ratio;pyruvate dehydrogenase enzymology;Thymidine phosphorylase enzymology | OXPHOS enzymology;High resolution respirometry;Coenzyme Q10;Intracellular glutathione;Intracellular free glutathione (fGSH), oxidized disulfide (GSSG), fGSH/GSSG ratio;pyruvate dehydrogenase enzymology;Thymidine phosphorylase enzymology | Alphanumeric | Atkuri, K.R., et al., Inherited Disorders Affecting Mitochondrial Function are Associated with Glutathione Deficiency and Hypocitrullinemia. Proc Natl Acad SCI U S A, 2009. 106(10): P. 3941-5. Valentino, M.L., et al., Thymidine and Deoxyuridine Accumulate in Tissue of Patients with Mitochondial Neurogastrointestinal Encephalomyopathy (MNGIE). Febs Lett, 2007. 581(18): P. 3410-4. Lara, M.C., et al., Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Biochemical Features and Therapeutic Approaches. Biosci Rep, 2007. 27(1-3): P. 151-63. Cordero, M.D., et al., Mitochondrial Dysfunction and Mitophagy Activation in Blood Mononuclear Cells of Fibromyalgia Patients: Implicatopns in the Pathogenesis of the Disease. Arthritis Res Ther, 2010. 12(1): P. R17. Duncan A.J., et al., Detrmination of Coenzyme Q10 Status in Blood Mononuclear Cells, Skeletal Muscle, and Plasma by HPLC with Di-propoxy-coenzyme Q10 as an Internal Standard. Clin Chem, 2005. 51(12): P. 2380-2. Kramer, P.A., et al., A Review of the Mitochondrial and Glcolytic Metabolism in Human Platelets and Leukocytes: Implications for their Use as Bioenergetic Biomarkers. REdox Biol, 2014. 2: P. 206-210. | Adult;Pediatric | Supplemental | 1.00 | 2014-12-19 10:51:50.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
|||||||||
| C19549 | Biomarker Sample Assessment Type | BiomarkSampAssessTyp | Type of sample obtained from specimen to assess the biomarker | Type of sample obtained from specimen to assess the biomarker | Sample/method used to assess the biomarker | Blood;Urine;CSF;Fibroblasts;Leukocytes;Neutrophils;Monocytes;Platelets (high OXPHOS);Lymphocytes;Lymphoblasts (EBV);Muscle biochemistry;Muscle histology;Myotubes;Liver histology;Liver biochemistry;Genetic Testing | Blood (Serum/Plasma);Urine;Cerebrospinal fluid;Fibroblasts;Leukocytes;Neutrophils;Monocytes;Platelets (high OXPHOS);Lymphocytes;Lymphoblasts (EBV);Muscle biochemistry;Muscle histology;Myotubes;Liver histology;Liver biochemistry;Genetic Testing | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2014-12-15 14:56:57.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
||||||||||
| C19561 | Biomarker platelet assessment type | BiomarkPlatAssessTyp | Type of biomarker(s) assessed from platelets (high OXPHOS) samples | Type of biomarker(s) assessed from platelets (high OXPHOS) sample | Which biomarker(s) were assessed from the specimen's platelets (high OXPHOS) sample? | OXPHOS enzymology;High resolution respirometry;Coenzyme Q10;Peripheral type benzodiazerpine | OXPHOS enzymology;High resolution respirometry;Coenzyme Q10;Peripheral type benzodiazerpine | Alphanumeric | Kramer, P.A., et al., A Review of the Mitochondrial and Glcolytic Metabolism in Human Platelets and Leukocytes: Implications for their Use as Bioenergetic Biomarkers. REdox Biol, 2014. 2: P. 206-210. Hroudova, J., et al., Mitochondrial Respiration in Blood Platelets of Depressive patients. Mitochondrion, 2013. 13(6): P. 795-800. Martini, C., ET AL., Peripheral Benzodiazepine Binding Sites in Platelets of Patients Affected by Mitochondrial Diseases and Large Scale Mitochondrial DNA Rearrangements. Mol Med, 2002. 8(12): P. 841-6. | Adult;Pediatric | Supplemental | 1.00 | 2014-12-19 10:55:10.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
|||||||||
| C19551 | Biomarker blood plasma specimen assessment type | BiomarkBloodPlasmaSpecAssesTyp | Type of biomarker(s) assessed from blood serum/plasma samples | Type of biomarker(s) assessed from blood serum/plasma sample | Which biomarker(s) were assessed from the specimen's blood (serum/plasma) sample? | Lactate;Pyruvate;lactate/pyruvate ratio;Leukocyte Coenzyme Q10;Amino acids(emphasis on alanine, alanine/lysine ratio, alanine/phenylalanine+lysine ratio, alanine/phenylalanine+lysine ratio, citrulline);Carnitine levels;CPK;Creatine;Free glutathione (fGSH);oxidized disulfide (GSSG);fGSH/GSSG ratio;Plasma carbonyl content;Fibroblast growth factor 21 (fgf21);Metabolic profiling;Hepatic enzymes (AST, ALT, GGT);Ammonia (NH3);Thymidine;Deoxyuridine | Lactate;Pyruvate;lactate/pyruvate ratio;Leukocyte Coenzyme Q10;Amino acids(emphasis on alanine, alanine/lysine ratio, alanine/phenylalanine+lysine ratio, alanine/phenylalanine+lysine ratio, citrulline);Carnitine levels;CPK;Creatine;Free glutathione (fGSH);oxidized disulfide (GSSG);fGSH/GSSG ratio;Plasma carbonyl content;Fibroblast growth factor 21 (fgf21);Metabolic profiling;Hepatic enzymes (AST, ALT, GGT);Ammonia (NH3);Thymidine;Deoxyuridine | Alphanumeric | "Suomalainen, A., Biomarkers For Mitochondrial Respiratory Chain Disorders. J Inherit Metab Dis, 2011. 34(2): P. 277-82. Haas, R.H., et al., Mitochondrial Disease: A Practical Approach for Primary Care Physicians. Pediatrics, 2007. 120(6): P. 1326-33. Mancuso, M., et al., Diagnostic Approach to Mitochondrial Disorders: The Need for a Reliable Biomarker. Curr Mol Med, 2009. 9(9): P. 1095-107. Davis, R.L., et al., Fibroblast Growth Factor 21 is a Sensitive Biomarker of Mitochondrial Disease. Neurology, 2013. 81(21): P. 1819-26. Atkuri, K.R., et al., Inherited Disorders Affecting Mitochondrial Function are Associated with Glutathione Deficiency and Hypocitrullinemia. Proc Natl Acad SCI U S A, 2009. 106(10): P. 3941-5. Longo, N., C. Amat Di San Filippo, and M. Pasquali, Disorders of Carnitine Transport and the Carnitine Cycle. Am J Med Genet C Semin Med Genet, 2006. 142C(2): P. 77-85. Shaham, O., et al., A Plasma Signature of Human Mitochondrial Disease Revealed Through Metabolic Profiling of Spent Media from Cultured Muscle Cells. Proc Natl Acad SCI U S A, 2010. 107(4): P. 1571-5. Frye, R.E., Et al., Redox Metabolism Abnormalities in Autistic Children Associated with Mitochondrial Disease. Transl Psychiatry, 2013. 3: P. E273. Ribas, V., C. Garcia-Ruiz, and J.C. Fernandez-Checa, Glutathione and Mitochondria. Front Pharmacol, 2014. 5: P. 151. Chau, M.D., et al., Fibroblast Growth Factor 21 Regulates Energy Metabolism by Activating the AMPK-SIRT1-PGC-1ALPHA Pathway. Proc Natl Acad SCI U S A, 2010. 107(28): P. 12553-8. Gavrilova, R. and R. Horvath, Fibroblast Growth Factor 21, a Biomarker for Mitochondrial Muscle Disease. Neurology, 2013. 81(21): P. 1808-9. Liang, C., K. Ahmad, and C.M. Sue, The Broadening Spectrum of Mitochondrial Disease: Shifts in the Diagnostic Paradigm. Biochim Biophys Acta, 2014. 1840(4): P. 1360-1367. Su, S.L., et al., FGF21 iN Ataxia Patients with Spinocerebellar Atrophy and Mitochondrial Disease. Clin Chim Acta, 2012. 414: P. 225-7. Suomalainen, A., Fibroblast Growth Factor 21: A Novel Biomarker for Human Muscle-Manifesting Mitochondrial Disease. Expert Opin Med Diagn, 2013. 7(4): P. 313-7. Suomalainen, A., et al., FGF-21 as a Biomarker for Muscle-Manifesting Respiratory Chain Deficiencies: A Diagnostic Study. Lancet Neurol, 2011. 10(9): P. 806-18. Turnbull, D., A New Biomarker for Mitochondrial Disease. Lancet Neurol, 2011. 10(9): P. 777-8. Tyynismaa, H., et al., Mitochondrial Myopathy Induces a Starvation-like Response. Hum Mol Genet, 2010. 19(20): P. 3948-58. Valentino, M.L., et al., Thymidine and Deoxyuridine Accumulate in Tissue of Patients with Mitochondial Neurogastrointestinal Encephalomyopathy (MNGIE). Febs Lett, 2007. 581(18): P. 3410-4. Lara, M.C., et al., Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Biochemical Features and Therapeutic Approaches. Biosci Rep, 2007. 27(1-3): P. 151-63." | Adult;Pediatric | Supplemental | 1.00 | 2014-12-18 15:54:03.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
|||||||||
| C19562 | Biomarker lymphocyte assessment type | BiomarkLymohAssessTyp | Type of biomarker(s) assessed from lymphocytes samples | Type of biomarker(s) assessed from lymphocytes sample | Which biomarker(s) were assessed from the specimen's lymphocytes sample? | OXPHOS enzymology;High resolution respirometry;Coenzyme Q10;Intracellular glutathione;DNA strand breaks by comet assay (cultured cells);Micronucleus assay followed by fluorescense in situ hybridisation;pyruvate dehydrogenase | OXPHOS enzymology;High resolution respirometry;Coenzyme Q10;Intracellular glutathione;DNA strand breaks by comet assay (cultured cells);Micronucleus assay followed by fluorescense in situ hybridisation;pyruvate dehydrogenase | Alphanumeric | Atkuri, K.R., et al., Inherited Disorders Affecting Mitochondrial Function are Associated with Glutathione Deficiency and Hypocitrullinemia. Proc Natl Acad SCI U S A, 2009. 106(10): P. 3941-5. Kramer, P.A., et al., A Review of the Mitochondrial and Glcolytic Metabolism in Human Platelets and Leukocytes: Implications for their Use as Bioenergetic Biomarkers. REdox Biol, 2014. 2: P. 206-210. Tomasetti, M., et al., Coenzyme Q10 Enrichment Decreases Oxidative DNA Damage in Human Lymphocytes. Free Radic Biol Med, 1999. 27(9-10): P. 1027-32. Migliore, L., ET AL., Evaluation of Cytogenetic and DNA Damage in Mitochondrial Disease Patients: Effects of Coenzyme Q10 Therapy. Mutagenesis, 2004. 19(1): P. 43-9. Naccarati, A., ET AL., Cytogenetic Damage in Peripheral Lympocytes of Mitochondrial Disease Patients. Neurol SCI, 2000. 21(5 SUPPL): P. S963-5. Vallance, H.D., J.R. Toone, and D.A. Applegarth, Measurement of Pyruvate Dehydrogenase (PDHC) in Interleukin-2 (IL-2) Stimulated Lymphocytes. J Inherit Metab Dis, 1994. 17(5): P. 627-8. Fouque, F., et al., Differential Effect of DCA Treatment on the Pyruvate Dehydrogenase Complex in Patients with Severe PDHC Deficiency. Pediatr Res, 2003. 53(5): P. 793-9. | Adult;Pediatric | Supplemental | 1.00 | 2014-12-19 10:58:52.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
|||||||||
| C19552 | Blood specimen lactate measurement status | BloodSpeclacMeasrStat | The status related to lactate level measured from the specimen's blood serum/plasma sample | The status related to lactate level measured from the specimen's blood serum/plasma sampl | Lactate accumulation level | Increase in lactate;Normal lactate;Decrease in lactate | Increase in lactate;Normal lactate;Decrease in lactate | Alphanumeric | "Suomalainen, A., Biomarkers For Mitochondrial Respiratory Chain Disorders. J Inherit Metab Dis, 2011. 34(2): P. 277-82. Haas, R.H., et al., Mitochondrial Disease: A Practical Approach for Primary Care Physicians. Pediatrics, 2007. 120(6): P. 1326-33. Mancuso, M., et al., Diagnostic Approach to Mitochondrial Disorders: The Need for a Reliable Biomarker. Curr Mol Med, 2009. 9(9): P. 1095-107. Davis, R.L., et al., Fibroblast Growth Factor 21 is a Sensitive Biomarker of Mitochondrial Disease. Neurology, 2013. 81(21): P. 1819-26." | Adult;Pediatric | Supplemental | 1.00 | 2014-12-18 15:58:14.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
|||||||||
| C19563 | Biomarker lymphoblast assessment type | BiomarkLymphAssessTyp | Type of biomarker(s) assessed from lymphoblasts samples | Type of biomarker(s) assessed from lymphoblasts sample | Which biomarker(s) were assessed from the specimen's lymphoblast sample? | ATP synthesis;High resolution respirometry | ATP synthesis;High resolution respirometry | Alphanumeric | Van Bergen, N.J., et al., Oxidative Phosphorylation Measurement in Cell Lines and Tissues. Mitochondrion, 2014. | Adult;Pediatric | Supplemental | 1.00 | 2014-12-19 11:04:10.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
|||||||||
| C19553 | Blood specimen pyruvate measurement status | BloodSpecPyrMeasrStat | The status as related to pyruvate level measured from the specimen's blood serum/plasma sample | The status as related to pyruvate level measured from the specimen's blood serum/plasma sampl | Pyruvate accumulation level | Increase in pyruvate;Normal pyruvate;Decrease in pyruvate | Increase in pyruvate;Normal pyruvate;Decrease in pyruvate | Alphanumeric | "Suomalainen, A., Biomarkers For Mitochondrial Respiratory Chain Disorders. J Inherit Metab Dis, 2011. 34(2): P. 277-82. Haas, R.H., et al., Mitochondrial Disease: A Practical Approach for Primary Care Physicians. Pediatrics, 2007. 120(6): P. 1326-33. Mancuso, M., et al., Diagnostic Approach to Mitochondrial Disorders: The Need for a Reliable Biomarker. Curr Mol Med, 2009. 9(9): P. 1095-107. Davis, R.L., et al., Fibroblast Growth Factor 21 is a Sensitive Biomarker of Mitochondrial Disease. Neurology, 2013. 81(21): P. 1819-26." | Adult;Pediatric | Supplemental | 1.00 | 2014-12-18 16:10:27.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
|||||||||
| C19564 | Biomarker muscle biochemistry assessment type | BiomarkMuscBiochAssessTyp | Type of biomarker(s) assessed from muscle biochemistry | Type of biomarker(s) assessed from muscle biochemistr | Which biomarker(s) were assessed from the specimen's muscle biochemsitry? | OXPHOS enzymology;High resolution respirometry;mtDNA copy number;mtDNA deletion/duplication;pyruvate dehydrogenase enzymology;pyruvate dehydrogenase subunit western blot;Coenzyme Q10;Glutathione;OXPHOS subunit western blot;Blue native gel electrophoresis;clear native gel OXPHOS immunoblot;clear native gel OXPHOS enzymology;Human mitochondrial transcription factor A (hmTFA or Tfam);Mitochondrial DNA absence factor (midas);Biogenesis regulator peroxisome proliferator-activated receptor-gamma coactivator- 1 alpha (PGC-1alpha);8-oxoguanine DNA glycolase-1 (OCG-1);Manganese superoxide dismutase (MnSOD);AIF;Bcl-2;Aconitase enzymology | OXPHOS enzymology;High resolution respirometry;mtDNA copy number;mtDNA deletion/duplication;pyruvate dehydrogenase enzymology;pyruvate dehydrogenase subunit western blot;Coenzyme Q10;Glutathione;OXPHOS subunit western blot;Blue native gel electrophoresis;clear native gel OXPHOS immunoblot;clear native gel OXPHOS enzymology;Human mitochondrial transcription factor A (hmTFA or Tfam);Mitochondrial DNA absence factor (midas);Biogenesis regulator peroxisome proliferator-activated receptor-gamma coactivator- 1 alpha (PGC-1alpha);8-oxoguanine DNA glycolase-1 (OCG-1);Manganese superoxide dismutase (MnSOD);AIF;Bcl-2;Aconitase enzymology | Alphanumeric | Van Den Heuvel, L.P., J.A. Smeitink, and R.J. Rodenburg, Biochemical Examination of Fibroblasts in the Diagnosis and Research of Oxidative Phosphorylation (OXPHOS) Defects. Mitochondrion, 2004. 4(5-6): P. 395-401. Schwab M.A., et al., Optimized Spctrophotometric Assay for the Completely Activated Pyruvate Dehydrogenase Complex in Fibroblasts. Clin Chem, 2005. 51(1): P. 151-60. Capaldi, R.A., et a;., Immunological Approaches to the Characterization and Diagnosis of Mitochondrial Disease. Mitochondrion, 2004. 4(5-6): P. 417-26. Calvaruso, M.A., J. Smeitink, AND L. Nijtmans, Electrophoresis Techniques to Investigate Defects in Oxidative Phosphorylation. MEthods, 2008. 46(4): P. 281-7. Carrozzo, R., ET AL., Subcomplexes of Human ATP Synthase Mark Mitochondrial Biosynthesis Disorders. Ann Neurol, 2006. 59(2): P. 265-75. Dimauro, S., C.M. Quinzii, and M. Hirano, Mutations in Coenzynme Q10 Biosynthetic Genes. J Clin Invest, 2007. 117(3): P. 587-9. Lopez, L.C., et al., Leigh Syndrome with Nephropathy and COQ10 Deficiency Due to Decarpenyl Diphosphate Synthase Subunit 2 (PDSS2) Mutations. Am J Hum Genet, 2006. 79(6): P. 1125-9. Adeva, M., et al., Enzymes Involved in L-lactate Metabolism in Humans. Mitochondrion, 2013. 13(6): P. 615-29. Hargreaves, I.P., et al., Glutathione Deficiency in Patients with Mitochondrial Disease: Implications for a Patho, 2005. 28(1): P. 81-8. Comi, G.P., et al., Cytochrome c Oxidase Subunit I Microdeletion in a Patient with Motor Neuron Disease. Ann Neurol, 1998. 43(1): P. 110-6. Andringa, K., A. King, and S. Bailey, Blue Native-gel Electrophoresis Prteomics. Methods Mol Biol, 2009. 519: P. 241-58. Tuppen, H.A., et al., Mutations in the Mitochondrial tRNA Ser(agy) Gene are Associated with Deafness, Retinal Degeneration, Myopathy and Epilepsy. Eur J Hum Genet, 2012. 20(8): P. 897-904. Assouline, Z., et al., A Constant and Similar Assembly Defect of Mitochonrial Respiratory Chain Complex I Allows Rapid Identification of NDUFS4 Mutations in Patients with Leigh Syndrome. Biobhim Biophys Acta, 2012. 1822(6): P. 1062-9. Pitceathly, R.D., et al., Kearns-Sayre Syndrome Caused by Defective R1/P53R2 Assembly. J Med Genet, 2011. 48(9): P. 610-7. Gerards, M., et al., Defective Complex I Assembly Due to C20ORF7 Mutations as a New Cause of Leigh Syndrome. J Med Genet, 2010. 47(8): P. 507-12. Wittig, I. and H. Schagger, Features and Applications of Blue-native and Clear-native Electrophoresis. Proteomics, 2008. 8(19): P. 3974-90. Wittig, I. and H. Schagger, Advantages and Limitations of Clear-native PAGE. Proteomics, 2005. 5(17): P. 4338-46. Wumaier, Z., et al., Chapter 8 Two-Dimensional Native Electrophoresis for Flourescent and Functional Assays of Mitochondrial Complexes. Methods Enzymol, 2009. 456: P. 153-68. Wittig, I., et al., Functional Assays in High-resolutio Clear Native Gels to Quantify Mitochondrial Complexes in Human Biopsies and Cell Lines. Electrphoresis, 2007. 28(21): P. 3811-20. Wittig, I., M. Karas, and H. Schagger, High Resolution Clear Native Electrophoresis for in-gel Functional Assays and Flourescence Studies of Membrane Protein Complexes. Mol Cell Proteomics, 2007. 6(7): P. 1215-25. Siciliano, G., et al., Abnormal Levels of Human Mitochondrial Transcription Factor A in Skeletal Muscle in Mitochondrial Encephalomyopathies. Neurol SCI, 2000. 21(5 SUPPL): P. S985-7. Nakashima-Kamimura N., et al., MIDAS/GPP34, A Nuclear Gene Product, Regulates Total Mitochondrial Mass in Response to Mitochondrial Dysfunction. J Cell SCI, 2005. 118(PT 22): P. 5357-67. Adhihetty, P.J., et al., The Effect of Training on the Expression of Mitochondrial Biogenesis- and Apoptosis-related Proteins in Skeletal Muscle of Patients with mtDNA Defects. Am J Physiol Endocrinol Metab, 2007. 293(3): P. E672-80. | Adult;Pediatric | Supplemental | 1.00 | 2014-12-19 11:06:43.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
|||||||||
| C19554 | Blood specimen lactate pyruvate ratio status | BloodSpecLacPyrRatStat | The status as related to lactate/pyruvate ratio level measured from the specimen's blood serum/plasma sample | The status as related to lactate/pyruvate ratio level measured from the specimen's blood serum/plasma sampl | Lactate/pyruvate ratio level | Increase in L:P ratio;Normal L:P ratio;Decrease in L:P ratio | Increase in L:P ratio;Normal L:P ratio;Decrease in L:P ratio | Alphanumeric | "Suomalainen, A., Biomarkers For Mitochondrial Respiratory Chain Disorders. J Inherit Metab Dis, 2011. 34(2): P. 277-82. Haas, R.H., et al., Mitochondrial Disease: A Practical Approach for Primary Care Physicians. Pediatrics, 2007. 120(6): P. 1326-33. Mancuso, M., et al., Diagnostic Approach to Mitochondrial Disorders: The Need for a Reliable Biomarker. Curr Mol Med, 2009. 9(9): P. 1095-107. Davis, R.L., et al., Fibroblast Growth Factor 21 is a Sensitive Biomarker of Mitochondrial Disease. Neurology, 2013. 81(21): P. 1819-26." | Adult;Pediatric | Supplemental | 1.00 | 2014-12-18 17:00:54.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Single Pre-Defined Value Selected |
|||||||||
| C19567 | Biomarker muscle histology assessment type | BiomarkMuscHistAssessTyp | Type of biomarker(s) assessed from muscle histology | Type of biomarker(s) assessed from muscle histolog | Which biomarker(s) were assessed from the specimen's muscle histology? | Gomori trichrome;succinate dehydrogenase (SDH);Cytochrome c Oxidase (COX) (Complex IV);Combined SDH+COX;Fibroblast growth factor 21 (fg21);OXPHOS subunit immunochemistry;Humanin immunochemistry | Gomori trichrome;succinate dehydrogenase (SDH);Cytochrome c Oxidase (COX) (Complex IV);Combined SDH+COX;Fibroblast growth factor 21 (fg21);OXPHOS subunit immunochemistry;Humanin immunochemistry | Alphanumeric | Davis, R.L., et al., Fibroblast Growth Factor 21 is a Sensitive Biomarker of Mitochondrial Disease. Neurology, 2013. 81(21): P. 1819-26. Suomalainen, A., et al., FGF-21 as a Biomarker for Muscle-Manifesting Respiratory Chain Deficiencies: A Diagnostic Study. Lancet Neurol, 2011. 10(9): P. 806-18. Tyynismaa, H., et al., Mitochondrial Myopathy Induces a Starvation-like Response. Hum Mol Genet, 2010. 19(20): P. 3948-58. Filosto, M., et al., Neuropathology of Mitochondrial Diseases. Biosci Rep, 2007. 27(1-3): P. 23-30. Ross, J.M., Visualization of Mitochondrial Respiratory Function Using Cytochrome C Oxidase/Succinate Dehydrogenase (COX/SDH) Double-labeling Histochemistry. J Vis Exp, 2011(57): P. E3266. De Paepe, B., et al., Immunohistochemical Analysis of the Oxidative Phosphorylation Complexes in Skeletal Muscle from Patients with Mitochondrial DNA Encoded tRNA gene Defects. J Clin Pathol, 2009. 62(2): P. 172-6. Kin, T., et al., Humanin Expression in Skeletal Muscles of Patients with Chronic Progressive Extrenal Ophthalmoplegia. J Hum Genet, 2006. 51(6): P. 555-8. | Adult;Pediatric | Supplemental | 1.00 | 2014-12-19 11:50:51.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
|||||||||
| C19555 | Biomarker Urine Assessment Type | BiomarkUrineAssessTyp | Type of biomarker(s) assessed from urine samples | Type of biomarker(s) assessed from urine sample | Which biomarker(s) were assessed from the specimen's urine sample? | Organic acids;3-methylglutaconic acid;amino acids;Lactate/creatinine | Organic acids;3-methylglutaconic acid;amino acids;Lactate/creatinine | Alphanumeric | "Suomalainen, A., Biomarkers For Mitochondrial Respiratory Chain Disorders. J Inherit Metab Dis, 2011. 34(2): P. 277-82. Haas, R.H., et al., Mitochondrial Disease: A Practical Approach for Primary Care Physicians. Pediatrics, 2007. 120(6): P. 1326-33. Barshop, B.A., Metabolomic Approaches to Mitochondrial Disease: Correlation of Urine Organic Acids. Mitochondrion, 2004. 4(5-6): P. 521-7. Wortmann, S., et al., Association with 3-Methylglutaconic Aciduria with Sensori-Neural Deafness, Encephalopathy, and Leigh-like Syndrome (MEGDEL Association) in Four Patients with a Disorder of Oxidative Phosphorylation. Mol Genet Metab, 2006. 88(1): P. 47-52. Wortmann, S., et al., Biochemical and Genetic Analysis of 3-Methylglutaconic Aciduria Type IV: A Diagnostic Stategy. Brain, 2009. 132(PT 1): P. 136-46." | Adult;Pediatric | Supplemental | 1.00 | 2014-12-18 17:09:07.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
|||||||||
| C19568 | Biomarker myotube assessment type | BiomarkerMyotAssessTyp | Type of biomarker(s) assessed nfrom myotubes | Type of biomarker(s) assessed nfrom myotube | Which biomarker(s) were assessed from the specimen's myotubes? | Metabolic profiling;High resolution respirometry | Metabolic profiling;High resolution respirometry | Alphanumeric | Shaham, O., et al., A Plasma Signature of Human Mitochondrial Disease Revealed Through Metabolic Profiling of Spent Media from Cultured Muscle Cells. Proc Natl Acad SCI U S A, 2010. 107(4): P. 1571-5. | Adult;Pediatric | Supplemental | 1.00 | 2014-12-19 12:04:16.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
|||||||||
| C19556 | Biomarker cerebrospinal fluid assessment type | BiomarkCerebrospFluAssessTyp | Type of biomarker assessed from CSF samples | Type of biomarker assessed from CSF samples | Which biomarker(s) were assessed from the specimen's cerebrospinal fluid (CSF) sample? | Lactate;Pyruvate;lactate/pyruvate ratio;Amino acids(emphasis on alanine, alanine/lysine ratio, alanine/phenylalanine+lysine ratio, alanine/phenylalanine+lysine ratio, citrulline);cell count;CSF protein;glucose (with simultaneous blood glucose) | Lactate;Pyruvate;lactate/pyruvate ratio;Amino acids(emphasis on alanine, alanine/lysine ratio, alanine/phenylalanine+lysine ratio, alanine/phenylalanine+lysine ratio, citrulline);cell count;CSF protein;glucose (with simultaneous blood glucose) | Alphanumeric | "Suomalainen, A., Biomarkers For Mitochondrial Respiratory Chain Disorders. J Inherit Metab Dis, 2011. 34(2): P. 277-82. Haas, R.H., et al., Mitochondrial Disease: A Practical Approach for Primary Care Physicians. Pediatrics, 2007. 120(6): P. 1326-33. Benoist, J.F., et al., Cerebrospinal Fluid Lactate and Pyruvate Concentrations and their Ratio in Children: Age-related Reference Intevals. Clin Chem, 2003. 49(3): P. 487-94. Leen, W.G., et al., Cerebrospinal Fluid Analysis in the Workup of GLUT1 Deficiency Syndorme: A Systematic Review. Jama Neurol, 2013. 70(11): P. 1440-4." | Adult;Pediatric | Supplemental | 1.00 | 2014-12-18 17:13:41.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
|||||||||
| C19569 | Biomarker genetic assessment type | BiomarkGenetAssessTyp | The types of genetic biomarker from the speciment that were evaluated | The types of genetic biomarker from the speciment that were evaluate | Which biomarker(s) were assessed from the specimen's genetics? | Cellular energetics gene sequencing (NGS) (nDNA +mtDNA);mtDNA sequencing;Exome sequencing (NGS) (nDNA);mtDNA deletion/duplication (Leukocytes);mtDNA deletion/duplication (muscle);mtDNA copy number (Leukocytes);mtDNA copy number (muscle);Mitochondrial haplotype;Mitochondrial gene expression profiling | Cellular energetics gene sequencing (NGS) (Ndna +mtDNA);mtDNA sequencing;Exome sequencing (NGS) (nDNA);mtDNA deletion/duplication (Leukocytes);mtDNA deletion/duplication (muscle);mtDNA copy number (Leukocytes);mtDNA copy number (muscle);Mitochondrial haplotype;Mitochondrial gene expression profiling | Alphanumeric | Adult;Pediatric | Supplemental | 1.00 | 2014-12-19 15:45:40.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
||||||||||
| C19557 | Biomarker fibroblasts assessment type | BiomarkFibroblAssessTyp | Type of biomarker(s) assessed from fibroblasts samples | Type of biomarker(s) assessed from fibroblasts sample | Which biomarker(s) were assessed from the specimen's fibroblasts sample? | High resolution respirometry;lactate/pyruvate ratio;OXPHOS enzymology;pyruvate dehydrogenase enzymology;pyruvate dehydrogenase subunit western blot;pyruvate dehydrogenase immunohistochemistry;ATP synthesis;Fibroblast OXPHOS subunit immunohistochemistry;OXPHOS subunit western blot;Blue native gel electrophoresis;clear native gel OXPHOS immunoblot;clear native gel OXPHOS enzymology;Coenzyme Q10 | High resolution respirometry;lactate/pyruvate ratio;OXPHOS enzymology;pyruvate dehydrogenase enzymology;pyruvate dehydrogenase subunit western blot;pyruvate dehydrogenase immunohistochemistry;ATP synthesis;Fibroblast OXPHOS subunit immunohistochemistry;OXPHOS subunit western blot;Blue native gel electrophoresis;clear native gel OXPHOS immunoblot;clear native gel OXPHOS enzymology;Coenzyme Q10 | Alphanumeric | "Cameron, J.M., et al., Respiratory Chain Analysis of Skin Fibroblasts in Mitochondrial Disease. Mitochondrion, 2004. 4(5-6): P. 387-94. Van Den Heuvel, L.P., J.A. Smeitink, and R.J. Rodenburg, Biochemical Examination of Fibroblasts in the Diagnosis and Research of Oxidative Phosphorylation (OXPHOS) Defects. Mitochondrion, 2004. 4(5-6): P. 395-401. Cameron, J.M., et al., Deficiency of Pyruvate Dehydrogenase Caused by Novel and Known Mutations in the E1ALPHA Subunit. Am J Med Genet A, 2004. 131(1): P. 59-66. Schwab M.A., et al., Optimized Spctrophotometric Assay for the Completely Activated Pyruvate Dehydrogenase Complex in Fibroblasts. Clin Chem, 2005. 51(1): P. 151-60. Capaldi, R.A., et a;., Immunological Approaches to the Characterization and Diagnosis of Mitochondrial Disease. Mitochondrion, 2004. 4(5-6): P. 417-26. Shepherd, R.K., et al., Measurement of ATP Production in Mitochondrial Disorders. J Inherit Metab Dis, 2006. 29(1): P. 86-91. De Paepe, B., et al., Diagnostic Value of Immunostaining in Cultured Skin Fibroblasts from Patients with Oxidative Phosphorylation Defects. Pediatr Res, 2006. 59(1): P. 2-6. Calvaruso, M.A., J. Smeitink, AND L. Nijtmans, Electrophoresis Techniques to Investigate Defects in Oxidative Phosphorylation. MEthods, 2008. 46(4): P. 281-7. Carrozzo, R., ET AL., Subcomplexes of Human ATP Synthase Mark Mitochondrial Biosynthesis Disorders. Ann Neurol, 2006. 59(2): P. 265-75. Dimauro, S., C.M. Quinzii, and M. Hirano, Mutations in Coenzynme Q10 Biosynthetic Genes. J Clin Invest, 2007. 117(3): P. 587-9. Lopez, L.C., et al., Leigh Syndrome with Nephropathy and COQ10 Deficiency Due to Decarpenyl Diphosphate Synthase Subunit 2 (PDSS2) Mutations. Am J Hum Genet, 2006. 79(6): P. 1125-9. Mollet, J., et al., Prenyldiphosphate Synthase Subunit 1 (PDSS1) And OH-Benzoate Polyprenyltransferase (COQ2) Mutations in Ubiquinone Deficiency and Oxidative Phosphorylation Disorders. J Clin Invest, 2007. 117(3): P. 765-72. Quinzii, C., et al., A Mutation in Para-hydroxybenzoate-polprenyltransferase (COQ2) Causes Primary Coenzyme Q10 Deficiency. Am J Hum Genet, 2006. 78(2): P. 345-9." | Adult;Pediatric | Supplemental | 1.00 | 2014-12-18 17:18:31.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
|||||||||
| C19558 | Biomarker leukocytes assessment type | BiomarkLeukoAssessTyp | Type of biomarker(s) assessed from leukocytes samples | Type of biomarker(s) assessed from leukocytes sample | Which biomarker(s) were assessed from the specimen's leukocytes sample? | Intracellular free glutathione;Intracellular coenzyme Q10;pyruvate dehydrogenase enzymology;Thymidine phosphorylase enzymology;Coenzyme Q10;mtDNA deletion/duplication;mtDNA copy number | Intracellular free glutathione;Intracellular coenzyme Q10;pyruvate dehydrogenase enzymology;Thymidine phosphorylase enzymology;Coenzyme Q10;mtDNA deletion/duplication;mtDNA copy number | Alphanumeric | "Atkuri, K.R., et al., Inherited Disorders Affecting Mitochondrial Function are Associated with Glutathione Deficiency and Hypocitrullinemia. Proc Natl Acad SCI U S A, 2009. 106(10): P. 3941-5. Valentino, M.L., et al., Thymidine and Deoxyuridine Accumulate in Tissue of Patients with Mitochondial Neurogastrointestinal Encephalomyopathy (MNGIE). Febs Lett, 2007. 581(18): P. 3410-4. Lara, M.C., et al., Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): Biochemical Features and Therapeutic Approaches. Biosci Rep, 2007. 27(1-3): P. 151-63. Cordero, M.D., et al., Mitochondrial Dysfunction and Mitophagy Activation in Blood Mononuclear Cells of Fibromyalgia Patients: Implicatopns in the Pathogenesis of the Disease. Arthritis Res Ther, 2010. 12(1): P. R17. Duncan A.J., et al., Detrmination of Coenzyme Q10 Status in Blood Mononuclear Cells, Skeletal Muscle, and Plasma by HPLC with Di-propoxy-coenzyme Q10 as an Internal Standard. Clin Chem, 2005. 51(12): P. 2380-2. " | Adult;Pediatric | Supplemental | 1.00 | 2014-12-19 10:36:45.0 | Biomarkers in Mitochondrial Disease | Laboratory Tests and Biospecimens/Biomarkers | Assessments and Examinations |
Multiple Pre-Defined Values Selected |
