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ACADMAcyl-CoA Dehydrogenase, Medium-Chain
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Roschinger et al., "Population spectrum of ACADM genotypes correlated to biochemical phenotypes in newborn screening for medium-chain acyl-CoA dehydrogenase deficiency," Human Mutation, vol.
Overall adipocyte VAT and SAT DIO2 gene expression was inversely related to markers of mitochondrial function (CIDEA, ATP5A, PGC1a, and CPT1B), fatty acid oxidation (ACADM), and fatty acid synthesis (ACC2, FASN, and DGAT).
Genomic DNA (g.DNA) (1-5 [micro]L) extracted from DBS was used for the optimization of standard and multiplex PCR amplifications followed by BigDye sequencing of the GALC, ACADM, ACADVL, GALT, and PAH genes.
3C) and qRT-PCR for the most common known mutations of the GALT and ACADM genes; these assays are presently used as second-tier (reflex) tests in the NYS NBSP.
Newborn screening (NBS) for MCAD deficiency has recently been implemented worldwide using liquid chromatography-tandem mass spectrometry (LC-MS/MS) to analyze blood spots from newborns for acylcarnitines thus making the identification of asymptomatic patients and the identification of a much wider spectrum of genetic lesions in the ACADM gene possible [5,13-16].
To date, more than 90 ACADM gene mutations have been described, with most being missense (HGMD Professional Database: hgmd).
Protein Expression of Key Enzymes of Glucose (GAPDH and PDH) and Lipid (ACADM and ACC) Metabolism and Proteins Mediating Oxidative Phosphorylation (Cytochrome c Oxidase and ATP Synthase).
Figures 3(c) and 3(d) show the time-dependent changes in the level of enzymes involved in fatty acid metabolism (oxidation and biosynthesis), ACADM and ACC, respectively.
Steers had lower (p < 0.05) mRNA levels of ACADM than bulls (Figure 3A).
Our study revealed that hepatic mRNA levels of FA oxidation CTP-1a and ACADVL genes and ACADM protein levels did not differ, although ACADM mRNA levels were lower in steers than in bulls.
[4] Human genes: CYBB, cytochrome b-245, beta peptide; BRCA1, breast cancer 1, early onset; CFTR, cystic fibrosis transmembrane conductance regulator (ATP binding cassette sub-family C, member 7); BRCA2, breast cancer 2, early onset; ACADM, acyl-CoA dehydrogenase, C-4 to C-12 straight chain; CYP2C9, cyto chrome P450, family 2, subfamily C, polypeptide 9; VKORC1, vitamin K epoxide reductase complex, subunit 1; F2, coagulation factor II (thrombin); F5, coagulation factor V (proaccelerin, labile factor); MTHFR, methylenetetrahydrofolate reductase (NAD(P)H).
The aim of this study was to compare the expression levels of PPAR[gamma], FASN, and ACADM mRNA in various adipose tissues (subcutaneous fat, abdominal fat, and perirenal fat), LD, lung, colon, kidney, liver, and heart between Yanbian yellow cattle and Yan yellow cattle.