Biomarker muscle biochemistry assessment type

General Details:

Name:
Biomarker muscle biochemistry assessment type
Steward:
NINDS
Definition:
Type of biomarker(s) assessed from muscle biochemistry.
Registration Status:
Qualified

Permissible Values:

Data Type:
Value List
Unit of Measure:
Ids:
Value Code Name Code Code System Code Description
OXPHOS enzymology OXPHOS enzymology OXPHOS enzymology
High resolution respirometry High resolution respirometry High resolution respirometry
mtDNA copy number mtDNA copy number mtDNA copy number
mtDNA deletion/duplication mtDNA deletion/duplication mtDNA deletion/duplication
pyruvate dehydrogenase enzymology pyruvate dehydrogenase enzymology pyruvate dehydrogenase enzymology
pyruvate dehydrogenase subunit western blot pyruvate dehydrogenase subunit western blot pyruvate dehydrogenase subunit western blot
Coenzyme Q10 Coenzyme Q10 Coenzyme Q10
Glutathione Glutathione Glutathione
OXPHOS subunit western blot OXPHOS subunit western blot OXPHOS subunit western blot
Blue native gel electrophoresis Blue native gel electrophoresis Blue native gel electrophoresis
clear native gel OXPHOS immunoblot clear native gel OXPHOS immunoblot clear native gel OXPHOS immunoblot
clear native gel OXPHOS enzymology clear native gel OXPHOS enzymology clear native gel OXPHOS enzymology
Human mitochondrial transcription factor A (hmTFA or Tfam) Human mitochondrial transcription factor A (hmTFA or Tfam) Human mitochondrial transcription factor A (hmTFA or Tfam)
Mitochondrial DNA absence factor (midas) Mitochondrial DNA absence factor (midas) Mitochondrial DNA absence factor (midas)
Biogenesis regulator peroxisome proliferator-activated receptor-gamma coactivator- 1 alpha (PGC-1alpha) Biogenesis regulator peroxisome proliferator-activated receptor-gamma coactivator- 1 alpha (PGC-1alpha) Biogenesis regulator peroxisome proliferator-activated receptor-gamma coactivator- 1 alpha (PGC-1alpha)
8-oxoguanine DNA glycolase-1 (OCG-1) 8-oxoguanine DNA glycolase-1 (OCG-1) 8-oxoguanine DNA glycolase-1 (OCG-1)
Manganese superoxide dismutase (MnSOD) Manganese superoxide dismutase (MnSOD) Manganese superoxide dismutase (MnSOD)
AIF AIF AIF
Bcl-2 Bcl-2 Bcl-2
Aconitase enzymology Aconitase enzymology Aconitase enzymology

Designations:

Designation:
Biomarker muscle biochemistry assessment type
Tags:

Designations:

Definition:
Type of biomarker(s) assessed from muscle biochemistry.
Tags:

Reference Documents:

ID:
Title:
URI:
Provider Org:
Language Code:
Document:
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.

Identifiers:

Source:
NLM
Id:
7kztlU49jr0
Version:
1
Source:
BRICS Variable Name
Id:
BiomarkMuscBiochAssessTyp
Version:
Source:
NINDS
Id:
C19564
Version:
1