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: http://www.biobase-international.com/product/ 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.